Gene: [01q24/SPTA1] spectrin, alpha, erythrocytic 1; pyropoikilocytosis, hereditary (HPP#; elliptocytosis II); spherocytosis, type III (MIM:270970); [HPP EL2 SPH3 ]

COM

 Basing on data of Huebner-1985 (analysis of hybrid cells and in situ hybridization on chromosomes), SPTA1 was thought to be located in segments q22-25 (the original report indicated q24 as the most probable location). Since 1989, the HGM catalogues indicate 1q21 location, according to Middleton-Price-1987,1988 (analysis of somatic hybrids and the linkage with MUC1 gene). However, the data of Huebner-1985 seem to be more precise, therefore the GEM catalogue indicates the location as q24."

HET

 The MIM catalogue describes hereditary pyropoikilocytosis (MIM:266140) as a recessive marker that depends on several loci, including SPTA1. An elliptocytosis II (EL2#) is described under MIM:130600; it is indicated as a primary marker, but apparently it also depends on SPTA1."

REF

 HIS,PAT "Chang &: J Clin Invest, 64, 326-328, 1979
CLO,SEQ,EXP "Curtis PJ &: Gene, 36, N3, 357-362, 1985
CAG,EAG "Elgsaeter &: Science, 234, 1217-1223, 1986
PAT,MOP "Evans &: Brit J Haematol, 54, 163-172, 1983
PAT,MUT "Garbarz &: Blood, 67, 1661-1667, 1986
LOC,CYG,MOL "Huebner K &: PNAS, 82, (Jun), 3790-3793, 1985
LOC,LIN,COM "Keats BJB: Hum Genet, 50, 227-230, 1979
PAT,MOP "Knowles &: J Clin Invest, 71, 1867-1877, 1983
PAT,MUT "Lambert, Zail: Blood, 69, 473-478, 1987
PAT,MUT "Lane &: J Clin Invest, 79, 989-996, 1987
PAT,MUT "Lawler &: Blood, 66, 706-709, 1985
PAT,MUT "Lawler &: J Clin Invest, 73, 1688-1695, 1984
PAT,MOP "Lawler &: J Clin Invest, 70, 1019-1030, 1982
PAT,MOP "Lecomte &: Hum Genet, 77, 329-334, 1987
PAT,MUT "Lecomte &: Blood, 65, 1208-1217, 1985
CLO,SEQ,EXP "Linnenbach AJ &: PNAS, 83, N8, 2397-2401, 1986
PAT,MOP "Liu &: PNAS, 79, 2072-2076, 1982
PAT,MOP "Liu &: J Clin Invest, 68, 597-605, 1981
PAT,MOP "Lux &: Prog Clin Biol Res, 45, 159-168, 1981
PAT,MUT "Marchesi &: J Clin Invest, 80, 191-198, 1987
PAT,MUT "Marchesi &: Blood, 67, 141-151, 1986
LOC,LIN "McAlpine PJ &: CCG, 51, (HGM10), 1042, 1989
LOC,LIN "Middleton-Price &: Ann Hum Genet, 52, (Part 4), 273-278, 1988
LOC,LIN "Middleton-Price &: CCG, 46, (HGM9), 662, 1987
MUT,MOL,CAG "Morle L &: Blood, 74, N2, 828-832, 1989
PAT,MUT "Palek, Coetzer: Blood Cells, 13, 237-250, 1987
PAT,MOP "Palek &: Blood, 57, 130-139, 1981
LOC,LIN "Raeymaekers P &: Hum Genet, 78, 76-78, 1988
PAT,MOP "Ravindranath, Johnson: Am J Hematol, 20, 53-65, 1985
MUT,MOL,CAG "Roux AF &: Blood, 73, N8, 2196-2201, 1989
CAG,EAG "Seldin &: CCG, 51, (HGM10), 1077, 1989
HIS,PAT "Zarkowsky &: Brit J Haematol, 29, 537-543, 1975

KEY

 hem, cysk

CLA

 coding, basic

LOC

 01 q24

MIM

 MIM: 182860

SYN

 HPP EL2 SPH3

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