斑驳性状基因初步定位于染色体4q12带。
Tentative assignment of piebald trait gene to chromosome band 4q12.
作者信息
Hoo J J, Haslam R H, van Orman C
出版信息
Hum Genet. 1986 Jul;73(3):230-1. doi: 10.1007/BF00401233.
PMID:3733079
Abstract
A case of de novo del(4)(q12q21.1) is presented. Three of four patients with comparable deletion show abnormal integumentary pigmentation, which is compatible with the known autosomal dominantly inherited piebald trait. Further analysis of breakpoints of five cases with proximal interstitial 4q deletion suggests the possible localization of the piebald trait gene within the band 4q12.
摘要
本文报告一例新发的del(4)(q12q21.1)病例。四名具有类似缺失的患者中有三名表现出异常的皮肤色素沉着，这与已知的常染色体显性遗传的斑驳性状相符。对五例近端4q间质性缺失病例的断点进行进一步分析表明，斑驳性状基因可能定位于4q12带内。
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