对大型近亲弗里德赖希共济失调家族的研究揭示了D9S15与疾病基因座之间的重组。
Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus.
作者信息
Belal S, Panayides K, Sirugo G, Ben Hamida C, Ioannou P, Hentati F, Beckmann J, Koenig M, Mandel J L, Ben Hamida M
机构信息
Laboratoire de Neurobiologie Moléculaire et de Neuropathologie, Institut National de Neurologie, Tunis.
出版信息
Am J Hum Genet. 1992 Dec;51(6):1372-6.
Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in 9q13-q21 should lead to the isolation of the defective gene by positional cloning. The two closest DNA markers, D9S5 and D9S15, show very tight linkage to FRDA, making difficult the ordering of the three loci. We present a linkage study of three large Friedreich ataxia families of Tunisian origin, with several multiallelic markers around D9S5 and D9S15. Haplotype data were used to investigate genetic homogeneity of the disease in these geographically related families. A meiotic recombination was found in a nonaffected individual, which excludes a 150-kb segment, including D9S15, as a possible location for the Friedreich ataxia gene and which should orient the search in the D9S5 region.
弗里德赖希共济失调是一种常染色体隐性遗传的神经退行性疾病。对位于9q13 - q21的弗里德赖希共济失调基因座（FRDA）进行精确的连锁图谱分析，有望通过定位克隆分离出缺陷基因。两个最紧密连锁的DNA标记D9S5和D9S15与FRDA显示出非常紧密的连锁关系，使得这三个基因座的排序变得困难。我们对三个来自突尼斯的大型弗里德赖希共济失调家系进行了连锁研究，使用了D9S5和D9S15周围的几个多等位基因标记。单倍型数据用于研究这些地理相关家系中该疾病的遗传同质性。在一个未患病个体中发现了一次减数分裂重组，这排除了包括D9S15在内的一个150kb片段作为弗里德赖希共济失调基因的可能位置，这将引导在D9S5区域进行搜索。
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