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首页> 美国卫生研究院文献>The Journal of Clinical Investigation >Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.
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Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene.

机译：精氨酸血症的分子基础。鉴定肝型精氨酸酶基因中两个离散的移码缺失。

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摘要

Argininemia results from a deficiency of arginase (EC 3.5.3.1), the last enzyme of the urea cycle in the liver. We examined the molecular basis for argininemia by constructing a genomic library followed by cloning and DNA sequencing. Discrete mutations were found on two alleles from the patient, a product of a nonconsanguineous marriage. There was a four-base deletion at protein-coding region 262-265 or 263-266 in exon 3 that would lead to a reading-frame shift after amino acid residue 87 and make a new stop codon at residue 132. The other was a one-base deletion at 77 or 78 in exon 2 that would lead to a reading-frame shift after residue 26 and make a stop codon at residue 31. For confirmation, genomic DNAs from the patient and from her parents were amplified by the polymerase chain reaction method. The patient was shown to be a compound heterozygote, inheriting an allele with the four-base deletion from the father and the other allele with the one-base deletion from the mother. These data seem to be the first evidence of a case of argininemia caused by two different deletion mutations.
机译：精氨酸缺乏症是由于精氨酸酶缺乏（EC 3.5.3.1）所致，这是肝脏中尿素循环的最后一种酶。我们通过构建基因组文库，然后进行克隆和DNA测序，检查了精氨酸血症的分子基础。在患者的两个等位基因上发现了离散突变，这是一种非近亲结婚的产物。在外显子3的蛋白质编码区262-265或263-266处有一个4个碱基的缺失，这会导致在氨基酸残基87后出现一个阅读框移位，并在残基132处产生一个新的终止密码子。外显子2中第77或78个碱基的一碱基缺失，这会导致残基26之后的阅读框移位，并在残基31处形成终止密码子。为证实这一点，通过聚合酶链扩增了患者及其父母的基因组DNA。反应方法。该患者显示为复合杂合子，其父亲继承了一个具有4个碱基缺失的等位基因，而母亲则继承了一个具有一个碱基缺失的另一个等位基因。这些数据似乎是由两个不同的缺失突变引起的精氨酸血症病例的第一个证据。

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