Таблица F 8 m

         Идентифицированные мутации в гене  фактора Vlll человека

                        1) Missense мутации
 -------------------------------------------------------------------------------
 Экзон:Кодон:Замена нук-:Замена ами-:              Литература              
   :
      :     : леотидов  : нокислот  :                                      
   :
 -------------------------------------------------------------------------------
    1   - 1    AGT-AGG     ser-arg         Tuddenham
E.G.D.,1994
    1   -19    ATG-ATA     met-ile         Tuddenham
E.G.D.,1994
    1     7    CTG-CGG     leu-arg         Tuddenham
E.G.D.,1994
    1    11    GAA-GTA     glu-val         Diamond
C.,1992
    1    14    TGG-GGG     trp-gly         Tavassoli
K.,1997
    1    15    GAC-GAT     asp-asp         Higuchi
M.,1990
    1    16    TAT-CAT     tyr-his         Tuddenham
E.G.D.,1994
    1    22    GGT-TGT     gly-cys         Tuddenham
E.G.D.,1994
    1    29    AGA-AAA     arg-cys         Tuddenham
E.G.D.,1994
    2    48    AAG-AAC     lys-asn         Tuddenham
E.G.D.,1994
    2    56    GAT-GAA     asp-glu         Tuddenham
E.G.D.,1994
    3    70    GGT-AGT     gly-ser         Tuddenham
E.G.D.,1994
    3    70    GGT-GAT     gly-asp         Tuddenham
E.G.D.,1994
    3    73    GGT-GTT     gly-val         Diamond
C.,1992   
    3    80    GTT-GAT     val-asp         Tuddenham
E.G.D.,1994
    3    82    GAT-GTT     asp-val         Tuddenham
E.G.D.,1994
    3    85    GTC-GAC     val-asp         Diamond
C.,1992
    3    89    AAG-ACG     lys-thr         Higuchi
M.,1991b
    3    91    ATG-GTG     met-val         Higuchi
M.,1991b
    3    94    CAT-CGT     his-arg         Arruda
V.R.,1995
    3    98    CTT-CGT     leu-arg         Tuddenham
E.G.D.,1994 
    3   110    GAG-GTG     glu-val         Tuddenham
E.G.D.,1994
    3   111    GGT-CGT     gly-arg         Lin
S.W.,1993
    4   113    GAA-GAC     glu-asp         Tuddenham
E.G.D.,1994  
    4   114    TAT-TGT     tyr-cys         Tuddenham
E.G.D.,1994
    4   116    GAT-GGT     asp-gly         Tuddenham
E.G.D.,1994 
    4   118    ACC-ATC     thr-ile         Tuddenham
E.G.D.,1994  
    4   145    GGT-GTT     gly-val         Diamond
C.,1992
    4   146    CCA-TCA     pro-ser         Lin
S.W.,1993
    4   162    GTG-ATG     val-met         Diamond
C.,1992
    4   166    AAA-ACA     lys-thr         Higuchi
M.,1991a
    4   170    TCA-TTA     ser-leu         Chan
V.,1989  
    5   183    AGT-AAT     ser-asp         Arruda
V.R.,1995  
    5   198    CTT-CAT     leu-his         Tuddenham
E.G.D.,1994
    5   200    GCT-GAT     ala-asp         Tuddenham
E.G.D.,1994
    5   203    GAT-GTT     asp-val         Tuddenham
E.G.D.,1994
    5   204    GAA-AAA     glu-lys         Tuddenham
E.G.D.,1994
    5   205    GGG-TGG     gly-trp         Higuchi
M.,1991a
    6   244    GGT-AGT     gly-ser         Tuddenham
E.G.D.,1994
    7   247    GGA-GAA     gly-glu         Tuddenham
E.G.D.,1994
    7   255    TGG-TGT     trp-cys         Tuddenham
E.G.D.,1994
    7   256    CAT-CTT     his-leu         Arruda
V.R.,1995
    7   259    GGA-AGA     gly-arg         Tuddenham
E.G.D.,1994
    7   266    GTG-GGG     val-gly         Higuchi
M.,1991b
                                           Arruda
V.R.,1995
    7   267    CAC-CCC     his-pro         Tuddenham
E.G.D.,1994
    7   272    GAA-GGA     glu-gly         Youssoufian H.,1988b
    7   272    GAA-AAA     glu-lys         Krepelova
A.,1992a 
    7   275    ACA-ATA     thr-ile         Tuddenham
E.G.D.,1994
    7   280    AAC-ATC     asn-ile         Pieneman
W.C.,1993
    7   282    CGC-CAC     arg-his         Higuchi
M.,1991b    
                                           McGinniss M.J.,1993
                                           Naylor
J.A.,1993a
    7   282    CGC-CTC     arg-leu         Tuddenham
E.G.D.,1994
    7   282    CGC-TGC     arg-cys         Arruda
V.R.,1995
    7   284    GCG-CCG     ala-pro         Tuddenham
E.G.D.,1994  
    7   284    GCG-GAG     ala-glu         Tuddenham
E.G.D.,1994 
    7   289    TCG-TTG     ser-leu         McGinniss M.J.,1993
    7   293    TTC-TCC     phe-ser         Higuchi
M.,1991b
    7   295    ACT-GCT     thr-ala         Higuchi
M.,1991a
    7   308    CTG-CCG     leu-pro         Tuddenham
E.G.D.,1994 
    8   326    GTA-CTA     val-leu         Kogan
S.,1990   
                                           Higuchi
M.,1990  
    8   329    TGT-CGT     cys-arg         Kogan
S.,1990 
    8   329    TGT-TAT     cys-tyr         Nafa
K.,1995
    8   329    TGT-TCT     cys-ser         David
D.,1995 
    8   372    CGC-CAC     arg-his         Arai
M.,1989  
                                           Pattinson
J.K.,1990    
                                           McGinniss M.J.,1993
                                           Reiner
A.P.,1992
    8  372     CGC-TGC     arg-cys         Shima
M.,1989  
                                           Pattinson
J.K.,1990    
                                           Lavergne
J.M.,1992    
    8  372     CGC-CCC     arg-pro         Tuddenham
E.G.D.,1994
    8  373     TCA-TTA     ser-leu         Acquila
M.,1993
    8  373     TCA-CCA     ser-pro         Jonson D.J.D.,1994
    8  386     ATT-AGT     ile-ser         Lin
S.W.,1993 
    8  390     GAG-GGG     glu-gly         Tuddenham
E.G.D.,1994
    9  412     TTG-TTT     leu-phe         Higuchi
M.,1991a
    9  425     AAA-AGA     lys-arg         Higuchi
M.,1991b
    9  431     TAC-AAC     tyr-asn         Pieneman
W.C.,1993
   10  469     GCA-GGA     ala-gly         Tuddenham
E.G.D.,1994
   10  473     TAT-CAT     tyr-his         Higuchi
M.,1991b
   10  473     TAT-TGT     tyr-cys         Higuchi
M.,1991a
   10  475     ATC-ACC     ile-thr         Tuddenham
E.G.D.,1994   
   10  479     GGA-AGA     gly-arg         Naylor
J.A.,1993     Naylor J.A.,1993a  
                                           David
D.,1994
   11  504     CTG-CTT     leu-leu         Tuddenham
E.G.D.,1994
   11  525     GAT-AAT     asp-asn         Tuddenham
E.G.D.,1994
   11  527     CGG-TGG     arg-trp         Higuchi
M.,1991a
                                           McGinniss M.J.,1993  
   11  531     CGC-TGC     arg-cys         Higuchi
M.,1991a   
                                           Economou
E.P.,1992       
                                           Diamond
C.,1992
   11  531     CGC-GGC     arg-gly         Higuchi
M.,1991a
   11  531     CGC-CAC     arg-his         Tuddenham
E.G.D.,1994
   11  535     AGT-GGT     ser-gly         Diamond
C.,1992    
                                           Tuddenham
E.G.D.,1994
   11  542     GAT-GGT     asp-gly         Higuchi
M.,1991b   
   11  558     TCT-TTT     ser-phe         McGinniss M.J.,1993
   11  560     GAT-GCT     asp-ala         Tuddenham
E.G.D.,1994  
   11  565     CAG-AAG     gln-lys         Higuchi
M.,1991a
   12  566     ATA-ACA     ile-thr         Aly
A.M.,1992c  
   12  577     TCT-CCT     ser-pro         Reiner
A.P.,1992
   12  584     AGC-ATC     ser-ile         Tuddenham
E.G.D.,1994
   12  585     TGG-TGC     trp-cys         Lin
S.W.,1993 
   12  586     TAC-TCC     tyr-ser         Lin
S.W.,1993 
   12  593     CGC-TGC     arg-cys         Higuchi
M.,1991b    
                                           Naylor
J.A.,1993     Naylor J.A.,1993a    
                                           Diamond
C.,1992   
   12  612     AAC-AGC     asn-ser         Tuddenham
E.G.D.,1994
   12  612     AAC-AAA     asn-lys         Tuddenham
E.G.D.,1994 
   13  618     AAT-GAT     asn-asp         Arruda
V.R.,1995
   13  618     AAT-AGT     asn-ser         Tuddenham
E.G.D.,1994
   13  620     TAT-TGT     tyr-cys         Tavassoli
K.,1997
   13  634     GTG-GCG     val-ala         McGinniss M.J.,1993
   13  634     GTG-ATG     val-met         McGinniss M.J.,1993
   13  640     CTA-CCA     leu-pro         Tuddenham
E.G.D.,1994
   13  644     GCA-GTA     ala-val         Higuchi
M.,1991a
   13  658     TTC-CTC     phe-leu         Tuddenham
E.G.D.,1994
   13  664     TAT-TGT     tyr-cys         Tuddenham
E.G.D.,1994
   13  667     ACA-AGA     thr-arg         Tuddenham
E.G.D.,1994
   13  679     TTC-CTC     phe-leu         Tuddenham
E.G.D.,1994
   13  686     GGT-GTT     gly-val         Tuddenham
E.G.D.,1994
   14  691     GGG-TGG     gly-trp         Tuddenham
E.G.D.,1994
   14  698     CGG-TGG     arg-trp         Diamond
C.,1992   
   14  698     CGG-CTG     arg-leu         Tuddenham
E.G.D.,1994
   14  701     GGC-GAC     gly-asp         Tuddenham
E.G.D.,1994
   14  704     GCC-ACC     ala-thr         Higuchi
M.,1991b 
   14  720     GAG-AAG     glu-lys         Tuddenham
E.G.D.,1994
   14  928     CCC-CGC     pro-arg         Tuddenham
E.G.D.,1994 
   14  993     GTT-CTT     val-leu         Tuddenham
E.G.D.,1994 
   14 1038     GAG-AAG     glu-lys         Higuchi
M.,1991a     
                                           McGinniss M.J.,1993
   14 1241     GAC-GAG     asp-glu         Tuddenham
E.G.D.,1994 
   14 1441     AAT-AAA     asn-lys         Tuddenham
E.G.D.,1994
   14 1462     CTG-CCG     leu-pro         Tuddenham
E.G.D.,1994
   14 1591     GCT-TCT     ala-ser         Tuddenham
E.G.D.,1994
   14 1680     TAT-TTT     tyr-phe         Higuchi
M.,1990
                                           Higuchi
M.,1991b
   14 1680     TAT-TGT     tyr-cys         Tuddenham
E.G.D.,1991  
   14 1689     CGC-TGC     arg-cys         Gitschier
J.,1988      
                                           Pattinson
J.K.,1990
                                           Higuchi
M.,1990      
                                           Lin
S.W.,1993     
                                           Arai
M.,1990       
                                           Schwaab
R.,1991      
                                           Aly
A.M.,1992a    
                                           Aly
A.M.,1992b
   14 1689     CGC-CAG     arg-his         Schwaab
R.,1991
   14 1696     CGA-GGA     arg-gly         Reiner
A.P.,1992
   14 1698     CGC-TGC     arg-cys         Tuddenham
E.G.D.,1994
   14 1704     GAG-AAG     glu-lys         Payton
C.,1991
   14 1709     TAT-TGT     tyr-cys         Traystman
M.D.,1990  
   15 1750     GGA-AGA     gly-arg         Tuddenham
E.G.D.,1994
   15 1756     TTG-GTG     leu-val         Tuddenham
E.G.D.,1994
   15 1756     TTG-TTC     leu-phe         Tuddenham
E.G.D.,1994 
   15 1760     GGG-GAG     gly-glu         Lin
S.W.,1993 
   15 1772     ATG-ACG     met-thr         Aly
A.M.,1992c 
   16 1781     CGT-CAT     arg-his         Higuchi
M.,1991b    
                                           Tavassoli
K.,1997
   16 1781     CGT-TGT     arg-cys         Jonsdottir S.,1992
   16 1781     CGT-GGT     arg-gly         Tuddenham
E.G.D.,1994
   16 1784     TCC-TAC     ser-tyr         Higuchi
M.,1991b   
   16 1789     CTT-TTT     leu-phe         Diamond
C.,1992  
                                           Lin
S.W.,1993   
                                           Arruda
V.R.,1995
   16 1823     ATG-ATA     met-ile         Lin
S.W.,1993
   16 1825     CCC-TCC     pro-ser         Higuchi
M.,1991a
   16 1826     ACT-CCT     thr-pro         Economou
E.P.,1992  
   16 1834     GCC-GTC     ala-val         Lin
S.W.,1993
   16 1834     GCC-ACC     ala-thr         Tuddenham
E.G.D.,1994 
   16 1843     CTG-CTA     leu-leu         Tuddenham
E.G.D.,1994 
   17 1846     GAT-AAT     asp-asn         Tuddenham
E.G.D.,1994
   17 1846     GAT-TAT     asp-tyr         Tuddenham
E.G.D.,1994
   17 1848     CAC-CGC     his-arg         Higuchi
M.,1991a
   17 1848     CAC-CCC     his-pro         Arruda
V.R.,1995
   17 1854     CCC-CGC     pro-arg         Tuddenham
E.G.D.,1994
   17 1855     GAG-AAG     glu-lys         Lin
S.W.,1993
   17 1857     GTC-CTC     val-leu         Tuddenham
E.G.D.,1994
   17 1869     AGA-ATA     arg-ile         Tuddenham
E.G.D.,1994
   17 1875     GAA-GGA     glu-gly         Tuddenham
E.G.D.,1994
   17 1885     GAG-AAG     glu-lys         Tuddenham
E.G.D.,1994 
   17 1889     TGG-TTG     trp-leu         Tavassoli
K.,1997 
   18 1922     AAT-GAT     asn-asp         Traystman
M.D.,1990     
                                           Higuchi
M.,1991b
   18 1922     AAT-AGT     asn-ser         Higuchi
M.,1991b  
                                           Diamond
C.,1992
   18 1932     TTA-TTT     leu-phe         Tuddenham
E.G.D.,1994
   18 1940                 arg-leu         Nafa
K.,1995
   18 1941     CGA-CAA     arg-gln         Levinson
B.,1990b     
                                           Lin
S.W.,1993   
                                           Naylor
J.A.,1993a
                                           Krepelova
A.,1992a     
                                           Arruda
V.R.,1995
   18 1941     CGA-CTA     arg-leu         Nafa
K.,1992   
   18 1947     ATG-ATA     met-ile         Tuddenham
E.G.D.,1994
   18 1948     GGC-GAC     gly-asp         David
D.,1994
   18 1952     AAC-ACC     asn-thr         Tuddenham
E.G.D.,1994
   18 1960     GGA-GTA     gly-val         Tuddenham
E.G.D.,1994
   18 1961     CAT-TAT     his-tyr         Tuddenham
E.G.D.,1994
   18 1961     CAT-GAT     his-asp         Tuddenham
E.G.D.,1994 
   19 1997     CGG-TGG     arg-trp         Higuchi
M.,1991a 
   19 1999     GAA-GGA     glu-gly         Tuddenham
E.G.D.,1994
   19 2019     AAT-AGT     asn-ser         Tuddenham
E.G.D.,1994
   20 2026     GGA-GAA     gly-glu         Tuddenham
E.G.D.,1994
   20 2026     GGA-GTA     gly-val         Tuddenham
E.G.D.,1994
   21 2046     TGG-CGG     trp-arg         Diamond
C.,1992
   21 2069     TCT-TTT     ser-phe         Tuddenham
E.G.D.,1994
   22 2074     GAT-GGT     asp-gly         Tuddenham
E.G.D.,1994  
   22 2087     CAG-CGG     gln-arg         Tavassoli
K.,1997 
   22 2088     GGT-AGT     gly-ser         Tuddenham
E.G.D.,1994
   22 2100     CAG-CGG     gln-arg         Tuddenham
E.G.D.,1994
   22 2101     TTT-TTG     phe-leu         Higuchi
M.,1991a
   22 2105     TAT-TGT     tyr-cys         Naylor
J.A.,1993 
   22 2116     CGA-CCA     arg-pro         Levinson
B.,1987   
                                           Lin
S.W.,1993 
   22 2119     TCC-TAC     ser-tyr         Higuchi
M.,1991a   
   23 2150     CGT-CAT     arg-his         Higuchi
M.,1991a          
                                           Higuchi
M.,1991b           
                                           Diamond
C.,1992       
                                           Jonsdotir
S.,1992         
                                           Naylor
J.A.,1993          
                                           Arruda
V.R.,1995     
   23 2153     CCA-CAA     pro-gln         Tuddenham
E.G.D.,1994     
   23 2154     ACT-ATT     thr-ile         Jonsdotir
S.,1992       
   23 2159     CGC-TGC     arg-cys         Higuchi
M.,1991a       
                                           Diamond
C.,1992        
                                            Jonsdotir S.,1992           
                                           Naylor
J.A.,1993          
                                           McGinniss M.J.,1993    
   23 2159     CGC-CTC     arg-leu         Arruda
V.R.,1995        
   23 2159     CGC-CAC     arg-his         Tuddenham
E.G.D.,1994
   23 2163     CGC-ACA     arg-his         Tuddenham
E.G.D.,1994    
   23 2163     CGC-TGC     arg-cys         Reiner
A.P.,1992    
   23 2163     CGC-CAC     arg-his         Theophilus B.D.M.,1998    
   23 2166     GTT-GCT     leu-ser         Levinson
B.,1990b  
   23 2185     ATA-ACA     ile-thr         Tuddenham
E.G.D.,1994
   24 2192     GCT-CCT     ala-pro         Lin
S.W.,1993    
   24 2209     CGA-CAA     arg-gln         Youssoufian H.,1988b         
                                                                           
          Bernardi F.,1988            
                                                                           
          Bernardi F.,1989     
                                           Traystman
M.D.,1990     
                                           Levinson
B.,1990b        
                                           Casula
L.,1990       
                                           Higuchi
M.,1991b   
                                           Lavergne
J.M.,1992        

                                           Schwaab
R.,1993 ;
                                           Schwaab
R.,1990 
                                           McGinniss M.J.,1993 
  24 2209     CGA-CTA     arg-leu           Milar D.S.,1991 
  24 2209     CGA-GGA     arg-gly          Traystman
M.D.,1990 ;
                                           Figueiredo M.S.,1994
  25 2223     GTG-ATG     val-met          Tuddenham
E.G.D.,1994
  24 2228     CGA-CAA     arg-gln          Casula
L.,1990
  25 2229     TGG-TGT     trp-cys          Naylor
J.A.,1991 ;
                                           Diamond
C.,1992 
  25 2238     ATG-GTG     met-val          Arruda
V.R.,1995 
  25 2245     ACT-GCT     thr-ala          Tuddenham
E.G.D.,1994
  25 2246     CAG-CGG     gln-arg          Tuddenham
E.G.D.,1994
  25 2262     ATC-ACC     ile-thr          Arruda
V.R.,1995  
  26 2285     GGA-GTA     gly-val          Tuddenham
E.G.D.,1994
  26 2300     CCG-CTG     pro-leu          Higuchi
M.,1991a 
  26 2300     CCG-TCG     pro-ser          Payton
C.,1991 
  26 2304     CGC-TGC     arg-cys          Higuchi
M.,1991b ;
                                           Reiner
A.P.,1992 
  26 2304     CGC-CAC     arg-his          Tuddenham
E.G.D.,1994
  26 2307     CGA-CAA     arg-gln           Gitschier J.,1986 ;
                                           Casula
L.,1990
                                           Lavergne
J.M.,1992
  26 2307     CGA-CTA     arg-leu          Inaba
H.,1989 ;
                                           Schwaab
R.,1993 ;
                                           Schwaab
R.,1990 
  26 2325     GGC-AGC     gly-ser          Tuddenham
E.G.D.,1994         
  26 2326     CGA-CAA     arg-gln          Casula
L.,1990
  
 ----------------------------------------------------------------------------
  

                         2) Nonsense мутации
 -------------------------------------------------------------------------------
 Экзон: Кодон :Замена нук-:Замена ами-:             Литература             
   :
      :       : леотидов  : нокислот  :                                    
   :
 -------------------------------------------------------------------------------
   1     -5    CGA-TGA     arg-ter             Pattinson J.K.,1990 ;
                                               Reiner A.P.,1992
   4    139    CAG-TAG     gln-ter             Tuddenham E.G.D.,1994 
   4    156    TAC-TAA     tyr-ter             Tuddenham E.G.D.,1994
   7    255    TGG-TGA     trp-ter             Tuddenham E.G.D.,1994 
   8    323    TAT-TAA     tyr-ter             Lin
S.W.,1993 
   8    336    CGA-TGA     arg-ter              Gitschier J.,1986 ;
                                               Pattinson J.K.,1990;
                                               Kogan
S.,1990 ;
                                               Nafa
K.,1995 
   8    373    TCA-TAA     ser-ter             Acquila M.,1993 
   9    427    CGA-TGA     arg-ter              Pattinson J.K.,1993 
  11    557    GAA-TAA     glu-ter             Diamond C.,1992
  12    583    CGA-TGA     arg-ter             Pattinson J.K.,1990 ;
                                                
  12    592                gln-ter             Tuddenham E.G.D.,1994
  12    602    CAG-TAG     gln-ter             Tuddenham E.G.D.,1994
  13    636    TAC-TAG     tyr-ter             Tuddenham E.G.D.,1994
  13    681    TCG-TAG     ser-ter             Tuddenham E.G.D.,1994 
  14    729    TAC-TAA     tyr-ter             Tuddenham E.G.D.,1994 
  14    795    CGA-TGA     arg-ter             Pattinson J.K.,1990
  14    853    TCA-TGA     ser-ter             Tuddenham E.G.D.,1994
  14   1257    TCA-TGA     ser-ter             Tuddenham E.G.D.,1994 
  14   1567    TGG-TGA     trp-ter             Tuddenham E.G.D.,1994 
  14   1615    GAG-TAG     glu-ter             Lavergne J.M.,1992 
  14   1621    GAA-TAA     glu-ter             Tuddenham E.G.D.,1994 
  14   1686    CAG-TAG     gln-ter             Higuchi M.,1990 
  14   1695    CGA-TGA     arg-ter             Pattinson J.K.,1990 ;
                                                Naylor J.A.,1993 
  16   1705    CAG-TAG     gln-ter             Higuchi M.,1990
  16   1732    AAA-TAA     lys-ter             Tuddenham E.G.D.,1994
  16   1796    CAG-TAG     gln-ter             Lin
S.W.,1993
  16   1827    AAA-TAA     lys-ter             Lin
S.W.,1993
  16   1837    TAT-TAG     tyr-ter             Tuddenham E.G.D.,1994
  16   1874    CAG-TAG     gln-ter              Naylor J.A.,1993 
  18   1941    CGA-TGA     arg-ter             Antonarakis S.E.,1985 ;
                                               Youssoufian H.,1986 ;
                                               Mathews R.J.,1987 ;
                                               Higuchi M.,1989 ;
                                               Casula L.,1990
                                               Lavergne J.M.,1992 ;
                                               Reiner A.P.,1992 ;
                                               Schwaab R.,1993 ;
                                                Figueiredo M.S.,1994 
  18   1942    TGG-TAG     trp-ter             Lin
S.W.,1993
  18   1960    CGA-TGA     arg-ter             Antonarakis S.E.,1985;
                                               Casula L.,1990
  18   1966    CGA-TGA     arg-ter             Reiner A.P.,1992;
                                               Lin
S.W.,1993
                                                Naylor J.A.,1993 ;
                                               Schwaab R.,1993 ;
                                                David D.,1994 
  19   1987    GAA-TAA     glu-ter              Naylor J.A.,1993 
  20   2021    TGT-TGA     cys-ter             Tuddenham E.G.D.,1994
  21   2046    TGG-TAG     trp-ter             Tuddenham E.G.D.,1994
  22   2116    CGA-TGA     arg-ter             Youssoufian H.,1986 ;
                                               Millar D.S.,1991 ;
                                               Lavergne J.M.,1992 ;
                                               Reiner A.P.,1992;
                                               Lin
S.W.,1993
                                               Naylor J.A.,1993 ;
                                               Tavassoli K.,1997
  23   2147    CGA-TGA     arg-ter             Levinson B.,1987 ;
                                               Mathews R.J.,1987
                                               Youssoufian H.,1988 ;
                                               Mikami S.,1988 ;
                                               Levinson B.,1990b ;
                                               Higuchi M.,1991b ;
                                               Millar D.S.,1991
  24   2209    CGA-TGA     arg-ter             Gitschier J.,1985 ;
                                               Youssoufian H.,1988 ;
                                               Mikami S.,1988b;
                                               Economou E.P.,1992 ;
                                               Lavergne J.M.,1992
                                               Reiner A.P.,1992 ;
                                               Schwaab R.,1993
  25   2270    CAG-TAG     gln-ter             Tuddenham E.G.D.,1994
  26   2307    CGA-TGA     arg-ter             Gitschier J.,1985 ;
                                               Levinson B.,1990b ;
                                               Higuchi M.,1991b ;
                                               Millar D.S.,1991
                                               Schwaab R.,1993 ;
                                               Figueiredo M.S.,1994 
  26   2313    TGG-TGA      trp-ter            Tuddenham E.G.D.,1994
 ----------------------------------------------------------------------------

 
                            3) Silent мутации

 -----------------------------------------------------------------------------
 Экзон:Кодон:Замена нук-:Замена амино-:          Литература                
 : 
      :     :  леотидов :   кислот    :                                    
 :
 -----------------------------------------------------------------------------
   1    15    GAC-GAT     asp-asp            Higuchi
M.,1990
   8   343    GCG-GCA     ala-ala            Tuddenham E.G.D.,1994
  11   504    CTG-CTT     leu-leu             Tuddenham E.G.D.,1991
  16  1843    CTG-CTA     leu-leu            Tuddenham E.G.D.,1994
  24  2213    CAA-CAG     gln-gln            Tuddenham E.G.D.,1994
 -----------------------------------------------------------------------------

                       4)  Мелкие    делеции
 ----------------------------------------------------------------------------
 Локализация     : Кодон :   Делетированные    :       Литература          
:
                 :       :     нуклеотиды      :                           
:
 ----------------------------------------------------------------------------

 Экзон 1/интрон 1  14-29        - 86bp         Figueiredo M.S.,1994
 Экзон 2            48          - AA           Lin
S.W.,1993
       2            50          - GTTT          Becker,1996         
       3            103         - GT            Seehafer 
 Экзон 3/интрон 3  104-111      - 23bp         Higuchi M.,1991b
 Экзон 4           154-156      -TACCT         Bidichandani S.I.,1994b
       6           210-211      - AG           Lin
S.W.,1993
       7             264        - T             Seehafer 
       7             283        - G             Becker,1996
       7             296        - G             Antonarakis S.E. 
       7             301        - ATG (-met)    Tagariello   
       8             322        - T             Chan V.,1996 
       8           339-342      - 12bp 
                                (AATAATGAAGAA)  Gitschier 
       8           340-341      - AATG         Kogan
S.,1990
       8             341        - CA           Higuchi M.,1990
       8             360        - GA           Higuchi M.,1990
       8           381-382      - AA            Becker,1996
       8           390-391      - AGG (-glu)    Chan V.,1996
       9             412        - G            Lin
S.W.,1993
       9             426        - AA            Maugard 
      10           483-487      - 11 bp 
                                (CCGTCCTTTGT)  Lin
S.W.,1993
      13           628-629      - AGTT          Becker,1996
      13             652        - TTC (-phe)   McGinniss M.J.,1993
      13           775/776      - GAACA         Becker,1996
      14             926        - 2             Pieneman W.C.,1995
      14             969        - AG           Lin
S.W.,1993
      14            1049        - AG           Arruda V.R.,1995
      14            1164        - AA           Lin
S.W.,1993
      14            1187        - ACAC          Becker,1996
      14            1191-4      - A             Pienemam W.C.,1995
      14            1192        - A             Becker,1996
      14            1194        - A            Lin
S.W.,1993
      14            1212        - C             Naylor J.A.,1993
      14          1355-1356     - TAGA         Lin
S.W.,1993
      14            1408        - T             Pienaman W.C.,1995
      14          1412-1414     - CTCTT         David D.
      14          1422-1425     - AAGA          Naylor J.A.,1993
      14          1439-1441     - A            Higuchi M.,1991a;
                                                Naylor J.A.,1993
      14          1555-1556     - GA           Higuchi M.,1991b
      14             1601       - C            Lin
S.W.,1993
      14          1671-1672     - AAATG         Matthija 
      14             1689       - С             Tuddenham  
      16             1780       - TC            Tavassoli   
      16             1801       - A             Pieneman W.C.,1995    
      17             1880       - C            Bidichandani S.I.,1995
      17             1899       - T            Chan V.,1996
      18           1967-1968    - A             Becker,1996
      19             1998       - G             Becker,1996
      23             2119       - TC            Kazazian  
      23             2136       - AA           Higuchi M.,1991a
      24             2205       - CTC (- pro)  Economou E.P.,1992;
                                               Lin
S.W.,1993
      24             2214       - G             Becker,1996

 
      25             2246       - AG           Lin S.W.,1993
      26           2285-2287    - AAATC         Becker,1996
      14             2409       - T            Vidal
F.,2000
 ----------------------------------------------------------------------------

                         5) Крупные делеции
 ----------------------------------------------------------------------------
    Локализация   :   Размер делеции в kb   :     Литература         
 ----------------------------------------------------------------------------

Экзон  1                >2                     Youssoufian H.,1988c
       1            
   >1                     Millar D.S.,1990
       1                 ?                     Reiner A.P.,1992b
       1                 ?                     Schwaab R.,1993
       1                 ?                     Higuchi M.,1991b
       1-26             >210                   Casarino L.,1986
       1-26             >210                   Casula L.,1990
       1-5              >35                    Higuchi M.,1987
       1-6              >55                    Millar D.S.,1990
 Экзон 1/интрон 1        13                    Schwaab R.,1993
 Интрон 1                 7                     Leninson B.,1990b
 Экзон  2-3             9-12                   Youssoufian H.,1988c;
        2-3             9-12                   Cutting G.R.,1988
        2-3             4,7                     Woods-Samuels P.,1991
        2-4              ?                     Lin
S.W.,1993
        3              1,2-1,7                 Higuchi M.,1987
        3              1,7-2,0                 Higuchi M.,1989
        3                ?                      Becker,1996
        3-5            11,5                    Millar D.S.,1990
        3-13            60                     Youssoufian H.,1988c
        3-13            60                     Cutting G.R.,1988
        4-7              ?                      Tuddenham  
        4-25          133-145                  Youssoufian H.,1988c
        4-25          133-145                  Cutting G.R.,1988
        4-10             ?                     Lin
S.W.,1993
        5               7,0                    Youssoufian H.,1987a
        5                2                      Brocker-Vriends
A.H.J.T.,1990
        5-6            2,5-10                  Levinson B.,1990b;
                                                Naylor J.A.,1993 
        5-6              ?                     Gitschier J.,1989
        5-6, 10-13,inv7-9                       Kariya,1989
        5-13             57                    Millar D.S.,1990
        6               7,0                    Youssoufian H.,1987a
                                               Youssoufian H.,1988c
        6               3-6                    Levinson B.,1990b
        6                10                    Levinson B.,1990b
        6                ?                     Lin
S.W.,1993
  6             <6 ="iguchi" m="Higuchi M.,1989
  7-14          40-56                          Youssoufian H.,1988c
  7-22          110                            Casula L.,1990
  10             4,8                           Krepelova A.,1992b
  10-18          57                             Woods-Samuels P.,1991
  11-22         80,0                           Antonarakis S.E.,1985
  11-22         60                             Cutting G.R.,1988
  14            2,0-2,5                        Higuchi M.,1987
  14            2,3-3,0                        Higuchi M.,1987
  14             2,5                           Youssoufian H.,1987a
  14             2,4                            Woods-Samuels P.,1989
  14             3,2                            Woods-Samuels P.,1991
  14             6                             Mikami S.,1988a
  14            12-14                          
  14            12-16                          Higuchi M.,1989
  14-21         50                             Millar D.S.,1990
  14-22         >36                            Nafa K.,1990
 Интрон 13/
  экзон 14      6,1                            Krepelova A.,1992b
 Интрон13/
  экзон 14      4,6                            Krepelova A.,1992b
  15-18         15                             Camerino L.,1986
  15-18         13                             Bardoni B.,1988
  15-21          ?                             Higuchi M.,1991b
  15-22         50                             Reiner A.P.,1992
  15-22         >15                            Tuddenham E.G.D.,1994
  15-22         >19                            Figueiredo M.S.,1994
  16-26         >95                            Figueiredo M.S.,1992
 Интрон 15/                                    
  экзон 16      0,304                          Schwaab R.,1993
  16            >0,2                           Bidichandani S.I.,1995
  17                                           Arruda V.R.,1995
  17-19           ?                            Wehnert M.,1989
  19             1,9                           Naylor J.A.,1993a 
  19-21          4,7                           Millar D.S.,1990
  22             5,5                           Youssoufian H.,1987a
  23-24           ?                            Lavergne J.M.,1992
  23-25         39,0                           Gitschier J.,1985
  23-25         16,0                           Youssoufian H.,1987a
  23-26          ?                             Din
N.,1986
  24-25          7,0                           Youssoufian H.,1987a
  Интрон 25/                                   
  экзон 26     
10,5                           Figueiredo
M.S.,1994
  26            >1,7                           Higuchi M.,1987
                                               Higuchi M.,1989
  26             >1,8                          Higuchi M.,1989
  26             8,7                           Bernardi F.,1988
  26            21,9                           Gitschier J.,1985
  26             2,0                           Youssoufian H.,1987a
  26            14                             Youssoufian H.,1988c
  26            >2                             Nafa K.,1990
  26            >2                             Bernardi F.,1989  
 ----------------------------------------------------------------------------

                     6)   Инсерции
 ----------------------------------------------------------------------------
 Экзон  :   Кодон    :  Инсерции                  :   Литература           
:
        :            :                            :                        
:
 ----------------------------------------------------------------------------
   2        38       TTCCATTCAA                    Lin S.W.,1993
  11       513-514   ins G                         Economou E.P.,1992
  12       613       ins ATC                       Tuddenham E.G.D.,1994
  13       669       ins A                         Tuddenham E.G.D.,1994
  14       961-963   ins A                         Naylor J.A.,1993
  14                 ins 3,8 kb LINE element       Kazazian H.H.,1988
  14                 ins 2,1 kb LINE element       Kazazian H.H.,1988
  14      1324       ins AA                        Lin S.W.,1993
  14      1414       ins A                         Higuchi M.,1991b
  14      1458-1460  ins A                         Higuchi M.,1991b
  14      1590       ins A                         Lin S.W.,1993
  17      1855       ins T                         Tuddenham E.G.D.,1994
  17      1907       ins A                         Higuchi M.,1991b
 ----------------------------------------------------------------------------
 
                       7) Сплайсинговые мутации
 
----------------------------------------------------------------------------
  Интрон: Донор/   :Локали-:  Замена нуклеотида  :      Литература         
 :
        :акцепторн.: зация :                     :                         
 :
 
----------------------------------------------------------------------------
  4                      G - A (GAA/GT - AAA/GT)     Youssoufian H.,1988
                       (новый донорный сайт IVS 4)
  4      as        - 2        A - G                  David D.,1995
  5      as        - 2        A - G                  Naylor J.A.,1991
  6      ds        + 3        A - G                  Bidichandani S.I.,1994a
  6      as        - 1        G - C                  Tuddenham E.G.D.,1994
 10+экзон 11                 CTG-CTT                 Economou E.P.,1992
                       (новый акцепторный сайт IVS 10)
 12      ds        + 5        G - A                  Tuddenham E.G.D.,1994
 12      as        - 37       G - A                  Diamond C.,1992 
 14      as        - 3        A - G                  Higuchi M.,1990
 14      as        - 2        A - G                  Tuddenham E.G.D.,1994
 15      ds        + 13       C - T                  Arruda V.R.,1995
 16      as        - 1        G - A                  Higuchi M.,1991a
 19      ds        + 1        G - A                  Tavassoli K.,1997
 ----------------------------------------------------------------------------

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