D4S10区RFLPs研究及其在Huntington病咨询中的意义

RFLPs IN CHINESE STUDIED BY pTV20 AND ITSAPPLICATION IN THE GENETIC COUNSELLING OF HUNTINGTON DISEASE

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.