ASS1 mutation leading to citrullinemia I in a Chinese Han family
ASS1 mutation leading to citrullinemia I in a Chinese Han family
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DOI：
10.3760/cma.j.issn.1003-9406.2011.06.007
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发表时间：
2011-12-01
期刊：
影响因子：
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通讯作者：
Xu Zheng-feng
中科院分区：
文献类型：
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作者：
Hu Ping;Zhou Xiao-yan;Xu Zheng-feng
目的探讨1例急性瓜氨酸血症I型患儿ASS 1基因的突变情况。方法从家系成员外周血中提取基因组DNA。通过PCR和直接DNA测序对14个ASS 1外显子进行突变分析。结果在该患儿的第13外显子上发现一个c.970G>A错义突变，导致p.G324S。父母的测序显示相同突变的杂合状态。结论ASS 1基因c.970G>A错义突变与婴幼儿先天性巨结肠症的发病有关。
Objective To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I. Methods Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing. Results A homozygous missense mutation of c.970G>A located in exon 13, which results in p.G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation. Conclusion A missense mutation of c.970G>A in the ASS1 gene is responsible for the pathogenesis of the disease in the infant.