将第二个弗里德赖希共济失调（FRDA2）基因座定位于9号染色体p23-p11：进一步基因座异质性的证据。

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

作者信息

Christodoulou K, Deymeer F, Serdaroğlu P, Ozdemir C, Poda M, Georgiou D M, Ioannou P, Tsingis M, Zamba E, Middleton L T

机构信息

The Cyprus Institute of Neurology and Genetics, Nicosia.

出版信息

Neurogenetics. 2001 Jul;3(3):127-32. doi: 10.1007/s100480100112.

DOI:10.1007/s100480100112

PMID:11523563

Abstract

Friedreich's ataxia (FRDA), the most-common form of autosomal recessive ataxia, is inherited in most cases by a large expansion of a GAA triplet repeat in the first intron of the frataxin (X25) gene. Genetic heterogeneity in FRDA has been previously reported in typical FRDA families that do not link to the FRDA locus on chromosome 9q13. We report localization of a second FRDA locus (FRDA2) to chromosome 9p23-9p11, and we provide evidence for further genetic heterogeneity of the disease, in a family with the classic FRDA phenotype.

摘要

弗里德赖希共济失调（FRDA）是常染色体隐性共济失调最常见的形式，在大多数情况下，它是由frataxin（X25）基因第一个内含子中的GAA三联体重复序列大量扩增而遗传的。先前在与9号染色体q13上的FRDA基因座无连锁关系的典型FRDA家系中报道了FRDA的遗传异质性。我们报告了第二个FRDA基因座（FRDA2）定位于9号染色体p23 - 9p11，并在一个具有典型FRDA表型的家系中提供了该病存在进一步遗传异质性的证据。