人类内披蛋白基因编码区单个重复序列缺失导致限制性片段长度多态性。
Absence of a single repeat from the coding region of the human involucrin gene leading to RFLP.
作者信息
Simon M, Phillips M, Green H, Stroh H, Glatt K, Burns G, Latt S A
机构信息
Department of Cellular and Molecular Physiology, Harvard Medical School, Boston, MA 02115.
出版信息
Am J Hum Genet. 1989 Dec;45(6):910-6.
Abstract
The human involucrin gene has been mapped to the region q21-q22 of chromosome 1. Three of six Utah families examined were polymorphic for a PstI fragment of the involucrin gene. In one individual, the variant PstI fragment was found by DNA sequencing to be missing one of the 39 repeats that make up two-thirds of the coding region.
摘要
人类兜甲蛋白基因已被定位到1号染色体的q21 - q22区域。在接受检测的6个犹他州家庭中，有3个家庭的兜甲蛋白基因的PstI片段存在多态性。在一个个体中，通过DNA测序发现该变异的PstI片段缺失了构成编码区三分之二的39个重复序列中的一个。
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