正常的亨廷顿舞蹈症（HD）等位基因，或一个紧密连锁的基因，会影响亨廷顿舞蹈症的发病年龄。
The normal Huntington disease (HD) allele, or a closely linked gene, influences age at onset of HD.
作者信息
Farrer L A, Cupples L A, Wiater P, Conneally P M, Gusella J F, Myers R H
机构信息
Department of Neurology, School of Medicine, Boston University, MA 02118.
出版信息
Am J Hum Genet. 1993 Jul;53(1):125-30.
Abstract
We evaluated the hypothesis that Huntington disease (HD) is influenced by the normal HD allele by comparing transmission patterns of genetically linked markers at the D4S10 locus in the normal parent against age at onset in the affected offspring. Analysis of information from 21 sibships in 14 kindreds showed a significant tendency for sibs who have similar onset ages to share the same D4S10 allele from the normal parent. Affected sibs who inherited different D4S10 alleles from the normal parent tended to have more variable ages at onset. These findings suggest that the expression of HD is modulated by the normal HD allele or by a closely linked locus.
摘要
我们通过比较正常亲本中D4S10位点基因连锁标记的传递模式与患病后代的发病年龄，来评估亨廷顿舞蹈病（HD）受正常HD等位基因影响这一假说。对14个家系中21个同胞对的信息分析表明，发病年龄相近的同胞倾向于共享来自正常亲本的相同D4S10等位基因。从正常亲本遗传不同D4S10等位基因的患病同胞发病年龄往往更具变异性。这些发现提示，HD的表达受正常HD等位基因或紧密连锁位点的调控。
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