Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12

被引：22

作者：

Nechiporuk, A

LopesCendes, I

Nechiporuk, T

Starkman, S

Andermann, E

Rouleau, GA

Weissenbach, JS

Kort, E

Pulst, SM

机构：

[1] UNIV CALIF LOS ANGELES,CEDARS SINAI MED CTR,SCH MED,DIV NEUROL,NEUROGENET LAB,LOS ANGELES,CA 90048

[2] MONTREAL GEN HOSP,CTR RES NEUROSCI,MONTREAL,PQ H3G 1A4,CANADA

[3] MONTREAL NEUROL INST,NEUROGENET UNIT,MONTREAL,PQ,CANADA

[4] UNIV UTAH,DEPT INFORMAT,SALT LAKE CITY,UT

[5] UNIV CALIF LOS ANGELES,SCH MED,DEPT NEUROL,LOS ANGELES,CA 90024

[6] UNIV CALIF LOS ANGELES,SCH MED,DEPT EMERGENCY MED,LOS ANGELES,CA 90024

来源：

NEUROLOGY | 1996年 / 46卷 / 06期

关键词：

D O I：

10.1212/WNL.46.6.1731

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The dominant spinocerebellar ataxias are a genetically heterogeneous group of diseases leading to premature death of neurons in the cerebellum and other parts of the nervous system. The mutation causing SCA1 is on human chromosome (CHR) 6p and SCA3 is on CHR 14q. To refine the location of the SCA2 gene on CHR 12q, we performed genetic linkage analysis between the SCAB locus and nine loci (D12S58, D12S78, D12S317, D12S330, D12S353, D12S84, D12S105, D12S79, and PLA2) in three SCA2 families. The highest pairwise lod scores were obtained between SCA2 and D12S84/D12S105 and D12S79, We determined the best order and genetic distances among these loci in ten multigenerational families by multipoint linkage analysis and established the following order: D12S101-D12S58/IGF1-D12S78-D12S317-D12S330/D12S353-D12S84/D12S105-D12S79-PLA2. Using this genetic map, multipoint linkage analysis placed SCA2 between D12S84/D12S105 and D12S79.

引用

页码：1731 / 1735

页数：5

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