在一名非酮症高甘氨酸血症患者中，甘氨酸脱羧酶cDNA的两个基因组拷贝之一在5'区域被删除。

One of the two genomic copies of the glycine decarboxylase cDNA has been deleted at a 5' region in a patient with nonketotic hyperglycinemia.

作者信息

Sakakibara T, Koyata H, Ishiguro Y, Kure S, Kume A, Tada K, Hiraga K

机构信息

Department of Biochemistry, Toyama Medical and Pharmaceutical University School of Medicine, Japan.

出版信息

Biochem Biophys Res Commun. 1990 Dec 31;173(3):801-6. doi: 10.1016/s0006-291x(05)80858-7.

DOI:10.1016/s0006-291x(05)80858-7

PMID:2268343

Abstract

One of eight patients with nonketotic hyperglycinemia resulted by the lesion in glycine decarboxylase showed the deletion of 0.6-kb SacI and 1.5-kb PstI fragments identified by the cDNA for this protein. A genomic clone, lambda HGDG10, encodes a 5' region of this cDNA in an organized structure and can produce these two fragments. The other clone, lambda HGDG8, carries a processed gene. Southern analysis using a limited segment of this cDNA demonstrated that the 1.7-kb and 1.5-kb PstI fragments predicted from its recognition sites in both genomic clones occur actually in the human genome, indicating that at least two copies of glycine decarboxylase cDNA exist in the haploid genome, and the patient has the glycine decarboxylase gene deleted at a 5' region.

摘要

在八名因甘氨酸脱羧酶病变导致非酮症高甘氨酸血症的患者中，有一名患者显示出由该蛋白的cDNA鉴定出的0.6kb SacI和1.5kb PstI片段缺失。一个基因组克隆lambda HGDG10以有组织的结构编码该cDNA的5'区域，并能产生这两个片段。另一个克隆lambda HGDG8携带一个加工过的基因。使用该cDNA的有限片段进行的Southern分析表明，从其在两个基因组克隆中的识别位点预测的1.7kb和1.5kb PstI片段实际上存在于人类基因组中，这表明单倍体基因组中至少存在两份甘氨酸脱羧酶cDNA，并且该患者在5'区域的甘氨酸脱羧酶基因缺失。