使弗里德赖希共济失调基因座定位于9号染色体长臂上D9S15/D9S5连锁群近端的基因重组事件。
Genetic recombination events which position the Friedreich ataxia locus proximal to the D9S15/D9S5 linkage group on chromosome 9q.
作者信息
Chamberlain S, Farrall M, Shaw J, Wilkes D, Carvajal J, Hillerman R, Doudney K, Harding A E, Williamson R, Sirugo G
机构信息
Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, London, England.
出版信息
Am J Hum Genet. 1993 Jan;52(1):99-109.
The absence of recombination between the mutation causing Friedreich ataxia and the two loci which originally assigned the disease locus to chromosome 9 has slowed attempts to isolate and characterize the genetic defect underlying this neurodegenerative disorder. A proximity of less than 1 cM to the linkage group has been proved by the generation of high maximal lod score (Z) to each of the two tightly linked markers D9S15 (Z = 96.69; recombination fraction [theta] = .01) and D9S5 (Z = 98.22; theta = .01). We report here recombination events which indicate that the FRDA locus is located centromeric to the D9S15/D9S5 linkage group, with the most probable order being cen-FRDA-D9S5-D9S15-qter. However, orientation of the markers with respect to the centromere, critical to the positional cloning strategy, remains to be resolved definitively.
导致弗里德赖希共济失调的突变与最初将该疾病基因座定位于9号染色体的两个基因座之间缺乏重组，这减缓了分离和鉴定这种神经退行性疾病潜在遗传缺陷的尝试。通过对两个紧密连锁的标记D9S15（Z = 96.69；重组率[θ]= 0.01）和D9S5（Z = 98.22；θ = 0.01）产生高的最大lod分数（Z），已证明与连锁群的距离小于1 cM。我们在此报告重组事件，这些事件表明FRDA基因座位于D9S15 / D9S5连锁群的着丝粒侧，最可能的顺序是cen-FRDA-D9S5-D9S15-qter。然而，对于位置克隆策略至关重要的标记相对于着丝粒的方向仍有待最终确定。
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