次黄嘌呤磷酸核糖转移酶（HPRT）结构基因5'端三个新缺失的特征分析
Characterization of three new deletions at the 5' end of the HPRT structural gene.
作者信息
Wehnert M, Herrmann F H
机构信息
Institute of Medical Genetics, German Democratic Republic.
出版信息
J Inherit Metab Dis. 1990;13(2):178-83. doi: 10.1007/BF01799683.
PMID:2116548
Abstract
In a panel of seven unrelated HPRT-deficient patients three partial deletions of the 5' end of the HPRT structural gene were identified by Southern blot analysis. The deletions could be defined as the loss of exons 1-3, exons 2-3 and exon 3 respectively. In two of the deletion mutations aberrant restriction fragments occurred.
摘要
在一组七名无亲缘关系的次黄嘌呤磷酸核糖转移酶（HPRT）缺陷患者中，通过Southern印迹分析鉴定出HPRT结构基因5'端的三个部分缺失。这些缺失分别可定义为外显子1-3、外显子2-3和外显子3的缺失。在两个缺失突变中出现了异常的限制性片段。
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