Gene: [19q132/APOE] apolipoprotein E; hyperlipoproteinemia, type III; [APOE1 HPL3 ]

GEN

 The gene length is 3.6 kb. Exons: 4, introns: 3.

FAG

 Apolipoprotein E receptor gene is identified; see GEM:12q1/LRP1.

PRO

 ApoE3 allele-specific cDNA probe pEB4 is a 0.93 kb fragment cloned in the plasmid (Wallis-1983)."

POL

 [1] HpaI RFLP described by Klasen-1987 is identified with the aid of probe pEB4 (Probe [1]); allele A1 is 50 kb (f= 0.62), Allele A2 is 20 kb (f= 0.38).
[2] The polymerase chain reaction has revealed about 10 polymorphic sites. For more details, see Emi-1988, Smeets-1988, Weisgraber-1988."

MAP

 Loci: GEM:19q132/APOC1P1; GEM:19q132/APOC1; GEM:19q132/APOC2; GEM:19q133/CKM; GEM:19q133/ERCC2; GEM:19q133/ERCC1; GEM:19q133/DMPK.
[1] See GEM:19q132/APOC1."

REF

 PHE,FOG,MUT,MEB "Boerwinkle &: AJHG, 27, N3, 567-582, 1987a
PHE,FOG,MUT,MEB "Boerwinkle &: Ann Hum Genet, 51, N3, 211-216, 1987b
SEQ,POL,ASS "Bullido MJ &: Nature Genet, 18, N1, 69-71, 1998
PAT,ASS,POG "Corder EH &: Science, 261, 921-923, 1993
MEB,EXP,PHE "Crespo &: BBRC, 168, N2, 733-740, 1990
SEQ,GEN,EXP,LOC "Das HK &: JBC, 260, N10, 6240-6247, 1985
MET,POL "Eichner &: Hum Hered, 41, 61-64, 1991
PRO,CLO,SEQ,MUT "Emi M &: Genomics, 3, 373-379, 1988
PRO,MUT,POL,MOL "Fellowes &: J Cell Biochem, 0, (Suppl 13D), 40, 1989
LIN,MAP "Gedde-Dahl &: Hum Genet, 67, 178-182, 1984
LIN,MAP "Jeanpierre M &: Somat Cell Mol Genet, 10, 645-649, 1984
POL,MOL,PAT "Klasen EC &: Hum Genet, 75, 244-247, 1987a
MUT,POG,FOG "Klasen EC &: Hum Hered, 37, 340-344, 1987b
MEB,FUN "Lalazar &: JBC, 264, N15, 8447-8450, 1989
LOC,LIN,MAF,FAG "Lusis AJ &: PNAS, 83, N11, 3929-3933, 1986
CLO,GEN,PEP,SEQ,MUT "Maeda H &: J Biochem, 105, N4, 491-493, 1989
POG,MUT,PAT,LIN "Moorjani &: Can J Neurol Sci, 16, N1, 129-133, 1989
MUT,PHE,FAG "Pedersen JC, Beng: Clin Genet, 38, N4, 287-294, 1990
PEP,SEQ "Rall SC &: JBC, 257, 4171-4178, 1982
LOC,LIN,MAP "Smeets B &: CCG, 51, (HGM10), 1081, 1989
LIN,POL,MOL "Smeets B &: Hum Genet, 80, 49-52, 1988a
PRO,MUT,POL,MOL "Smeets B &: J Lipid Res, 29, 1231-1237, 1988b
LOC,LIN,MAF,FAG "Smit M &: Hum Genet, 78, N1, 90-93, 1988a
MUT,PHE,FOG,FAG "Smit M &: Hum Hered, 38, 277-282, 1988b
PRO,CLO,LIN "Wallis SC &: Hum Genet, 68, 286-289, 1984
PRO,CLO,EXP "Wallis SC &: EMBO J, 2, 2369-2373, 1983
PRO,MUT,POL,MOL "Weisgraber KH &: BBRC, 157, 1212-1217, 1988
MEB,FUN "Wernette-Hammond &: JBC, 264, N15, 9094-9101, 1989

KEY

 ats, card, lip

CLA

 coding, basic

LOC

 19 q13.2

MIM

 MIM: 107741

SYN

 APOE1 HPL3

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