通过原位杂交对与弗里德赖希共济失调基因座紧密连锁的人类9号染色体标记进行区域定位。
Regional localization by in situ hybridization of a human chromosome 9 marker tightly linked to the Friedreich's ataxia locus.
作者信息
Raimondi E, Antonelli A, Driesel A J, Pandolfo M
机构信息
Dipartimento di Genetica e Microbiologia, A. Buzzati Traverso, dell'Università di Pavia, Italy.
出版信息
Hum Genet. 1990 Jun;85(1):125-6. doi: 10.1007/BF00276338.
PMID:1972693
Abstract
In order to determine the regional localization of the Friedreich's ataxia (FA) gene on chromosome 9, the DNA probe DR47 (D9S5), which detects a restriction fragment length polymorphism (RFLP) in tight linkage with the disease, was hybridized in situ to metaphase chromosomes. Our results enable the D9S5 locus to be assigned to the 9q12-q13 region, thus indicating that this is also the localization of the FA gene.
摘要
为了确定9号染色体上弗里德赖希共济失调（FA）基因的区域定位，将检测到与该疾病紧密连锁的限制性片段长度多态性（RFLP）的DNA探针DR47（D9S5）与中期染色体进行原位杂交。我们的结果使D9S5位点被定位到9q12-q13区域，从而表明这也是FA基因的定位。
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