摘要
应用pTV20探针研究了人类基因组D4S10区的限制性片段长度多态性(RFLPs)在中国人群的分布。结果表明,中国人群中存在有2.3kb(a)和3.5kb(b)两种等位片段;其中a占36.54%,b占63.46%;a/a纯合子占11.54%,b/b纯合子占38.46%,a/b杂合子占50%。Hutington病家系分析表明:pTV20探针可用于某些家系的遗传咨询中。
RFLPs within D4S10 region of human chromosome was analysed by a DNA probe pTV20. The study revealed that there were two DNA fragments, 2.3kb and 3.5kb. The frequency of 2.3kb in Chinese population was 36.54% while that of 3.5kb was 63.46%. These two DNA fragments were linked to Huntington disease gene in Chinese pedigrees. No recombination was found. The result may serve as a basis of presymptomatic diagnosis of Huntington disease in China.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
1993年第5期271-273,共3页
Chinese Journal of Medical Genetics
基金
国家自然科学基金
关键词
多态现象
遗传学
核酸杂交
舞蹈病
Polymorphism (Genetic) Huntington disease Nucleic acid hybridization