COL4A5基因的新生突变将甘氨酸325转换为谷氨酸，导致阿尔波特综合征。
De novo mutation in the COL4A5 gene converting glycine 325 to glutamic acid in Alport syndrome.
作者信息
Renieri A, Seri M, Myers J C, Pihlajaniemi T, Massella L, Rizzoni G, De Marchi M
机构信息
Dipartimento di Biologia Molecolare, Università di Siena, Italy.
出版信息
Hum Mol Genet. 1992 May;1(2):127-9. doi: 10.1093/hmg/1.2.127.
PMID:1363780
Abstract
Southern blot analysis of the COL4A5 gene in a 6 year old Italian Alport patient (proband VIZ) showed the loss of an MspI site that was present in the mother and control DNAs. PCR amplification and DNA sequencing revealed a single G-->A nucleotide change. The mutation results in substitution of a glutamic acid for a glycine residue at position 325 in the triple helical region of the alpha 5(IV) chain.
摘要
对一名6岁意大利阿尔波特综合征患者（先证者VIZ）的COL4A5基因进行的Southern印迹分析显示，母亲和对照DNA中存在的一个MspI位点缺失。PCR扩增和DNA测序揭示了一个单一的G→A核苷酸变化。该突变导致α5(IV)链三螺旋区域第325位的甘氨酸残基被谷氨酸取代。
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