GENETIC-MAPPING OF THE SPINOCEREBELLAR ATAXIA-2 (SCA2) LOCUS ON CHROMOSOME-12Q23-Q24.1

被引：37

作者：

HERNANDEZ, A

MAGARINO, C

GISPERT, S

SANTOS, N

LUNKES, A

OROZCO, G

HEREDERO, L

BECKMANN, J

AUBURGER, G

机构：

[1] UNIV HOSP DUSSELDORF, DEPT NEUROL, D-40001 DUSSELDORF, GERMANY

[2] HOSP LENIN, DEPT NEUROL, HOLGUIN, CUBA

[3] CTR ETUD POLYMORPHISME HUMAIN, F-75010 PARIS, FRANCE

来源：

GENOMICS | 1995年 / 25卷 / 02期

关键词：

D O I：

10.1016/0888-7543(95)80043-L

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

A refined genetic map of the spinocerebellar ataxia 2 locus was constructed through linkage and haplotype analysis of 11 large pedigrees from the Holguin SCA2 family collective. Three-point analysis makes a localization of the SCA2 mutation in the 6-cM. interval D12S84-D12S79 likely. This is consistent with haplotype results indicating a crossover event between two branches of the SCA2 family Rs and placing the mutation on the telomeric side of D12S84. The microsatellite D12S105 within this interval shows a peak two-point lod score of Z = 16.14 at theta = 0.00 recombination and complete linkage disequilibrium among affected individuals. These data together with the observation of a common disease haplotype among all family ancestors support the notion of an SCA2 founder effect in Holguin province. (C) 1995 Academic Press, Inc.

引用

页码：433 / 435

页数：3

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