Mukerji M, Choudhry S, Saleem Q, Padma M V, Maheshwari M C, Jain S
Functional Genomics Unit, Centre for Biochemical Technology, Delhi, India.
Acta Neurol Scand. 2000 Oct;102(4):227-9. doi: 10.1034/j.1600-0404.2000.102004227.x.
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in the frataxin gene. We have carried out the first molecular analysis at the Friedreich's ataxia locus in the Indian population.
Three families clinically diagnosed for Friedreich's ataxia were analyzed for GAA expansion at the FRDA locus. The distribution of GAA repeats was also estimated in normal individuals of Indian origin.
All patients clinically diagnosed for Friedreich's ataxia were found to be homozygous for GAA repeat expansion. The GAA repeat in the normal population show a bimodal distribution with 94% of alleles ranging from 7-16 repeats.
Indian patients with expansion at the FRDA locus showed typical clinical features of Friedreich's ataxia. The low frequency of large normal alleles (6%) could indicate that the prevalence of this disease in the Indian population is likely to be low.
弗里德赖希共济失调（FRDA）是一种常染色体隐性神经退行性疾病，由frataxin基因中GAA重复序列的扩增引起。我们在印度人群中对弗里德赖希共济失调基因座进行了首次分子分析。
对三个临床诊断为弗里德赖希共济失调的家系进行FRDA基因座GAA扩增分析。还在印度裔正常个体中估计了GAA重复序列的分布。
所有临床诊断为弗里德赖希共济失调的患者均被发现为GAA重复扩增纯合子。正常人群中的GAA重复序列呈双峰分布，94%的等位基因重复次数在7至16次之间。
FRDA基因座扩增的印度患者表现出弗里德赖希共济失调的典型临床特征。大的正常等位基因频率较低（6%）可能表明该疾病在印度人群中的患病率可能较低。
