MAPPING OF MUTATION CAUSING FRIEDREICHS ATAXIA TO HUMAN CHROMOSOME-9
MAPPING OF MUTATION CAUSING FRIEDREICHS ATAXIA TO HUMAN CHROMOSOME-9
复制标题
DOI：
10.1038/334248a0
复制
发表时间：
1988-07-21
期刊：
影响因子：
64.8
通讯作者：
WILLIAMSON, R
中科院分区：
文献类型：
--
作者：
CHAMBERLAIN, S;SHAW, J;WILLIAMSON, R
Friedreich‘s共济失调是一种常染色体隐性遗传病，伴有中枢和周围神经系统的进行性退行性变1，2。由于成功定位了导致Duchenne肌营养不良3，4，亨廷顿病5和囊性纤维化6-8的突变，我们进行了分子遗传连锁研究，以确定Friedreich共济失调突变的染色体位置，作为分离和鉴定缺陷基因的第一步。我们报告了通过与匿名标记MCT112和干扰素-β基因探针的遗传连锁，将该疾病的基因突变分配到染色体9p22-CEN。与这种疾病的临床变异相反，没有观察到遗传异质性的证据。
Friedreich's ataxia is an autosomal recessive disease with progressive degeneration of the central and peripheral nervous system1,2. The biochemical abnormality underlying the disorder has not been identified. Prompted by the success in localizing the mutations causing Duchenne muscular dystrophy3,4, Huntington's disease5and cystic fibrosis6–8, we have undertaken molecular genetic linkage studies to determine the chromosomal site of the Friedreich's ataxia mutation as an initial step towards the isolation and characterization of the defective gene. We report the assignment of the gene mutation for this disorder to chromosome 9p22-CEN by genetic linkage to an anonymous DNA marker MCT112 and the interferon-β gene probe. In contrast to the clinical variation seen for the disorder, no evidence of genetic heterogeneity is observed.