Southern印迹分析显示，一名患有莱施-奈恩综合征的患者次黄嘌呤磷酸核糖转移酶基因座存在大片段缺失。

Southern analysis reveals a large deletion at the hypoxanthine phosphoribosyltransferase locus in a patient with Lesch-Nyhan syndrome.

作者信息

Renwick P J, Birley A J, McKeown C M, Hultén M

机构信息

Regional Genetic Laboratory Service, East Birmingham NHS Hospital Trust, UK.

出版信息

Clin Genet. 1995 Aug;48(2):80-4. doi: 10.1111/j.1399-0004.1995.tb04060.x.

DOI:10.1111/j.1399-0004.1995.tb04060.x

PMID:7586656

Abstract

Whole genomic hprt clones were used in Southern analysis to screen the integrity of the hprt gene in a family that includes a patient with HPRT enzyme deficiency causal to Lesch-Nyhan syndrome. A 5 kb DNA sequence deletion was found to have its endpoints in the first and third introns. The probes identified the carrier status of female family members, aided by an RFLP carried by the mother's normal X-chromosome.

摘要

在Southern分析中使用全基因组hprt克隆，以筛查一个家族中hprt基因的完整性，该家族中有一名患有导致莱施-奈恩综合征的HPRT酶缺乏症的患者。发现一个5 kb的DNA序列缺失，其端点位于第一和第三内含子中。借助母亲正常X染色体携带的一个限制性片段长度多态性（RFLP），这些探针确定了女性家族成员的携带者状态。