古巴奥尔金常染色体显性遗传性小脑共济失调的染色体定位研究：排除4号染色体和11q上的候选区域。

Search for the chromosomal location of autosomal dominant cerebellar ataxia from Holguin, Cuba: exclusion from candidate regions on chromosome 4 and 11q.

作者信息

Gispert S, Nothers C, Orozco G, Auburger G

机构信息

National Center of Medical Genetics, Havanna, Cuba.

出版信息

Hum Hered. 1993 Jan-Feb;43(1):12-20. doi: 10.1159/000154107.

DOI:10.1159/000154107

Abstract

A gene locus for autosomal dominant cerebellar ataxia (ADCA) has been found on chromosome 6p and named spinocerebellar ataxia 1. However, linkage exclusion from chromosome 6p and thus locus heterogeneity has been proven in Cuban ADCA, the largest known collective of ADCA patients, probably due to a founder effect. Two chromosomal regions were analyzed for linkage to Cuban ADCA: chromosome 4, since a pericentromeric inversion has been reported in a member of a European ADCA family, and chromosome 11q22-23, since it is known to contain the gene locus for ataxia telangiectasia, the main autosomal recessive disorder of cerebellar degeneration. In neither region was evidence for linkage found.

摘要

已在6号染色体短臂上发现常染色体显性遗传性小脑共济失调（ADCA）的一个基因位点，并将其命名为脊髓小脑共济失调1型。然而，在古巴ADCA（已知最大的ADCA患者群体）中已证实6号染色体短臂不存在连锁关系，因此存在位点异质性，这可能是由于奠基者效应。对两个染色体区域进行了与古巴ADCA的连锁分析：4号染色体，因为在一个欧洲ADCA家族的一名成员中报告了一个着丝粒周围倒位；11号染色体q22 - 23区域，因为已知该区域包含共济失调毛细血管扩张症的基因位点，共济失调毛细血管扩张症是小脑变性的主要常染色体隐性疾病。在这两个区域均未发现连锁证据。

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