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目的 了解我国Ｘ伴性显性（ＸＤ）遗传Ａｌｐｏｒｔ综合征（ＡＳ）中ＣＯＬ４ＡＳ基因突变特点。方法应用聚合酶链反应（ＰＣＲ）－变性梯度凝胶电泳（ＤＧＧＥ）和直接测序的方法，对来自７个ＸＤ－ＡＳ家系１０个成员和１００个正常人外周血ＤＮＡ标本进行了．ＣＯＬ４Ａ５基因４３号外显子的检测。结果在一个家系中发现４１４２Ｃ→Ｔ（Ｐｒｏ１３１４Ｓｅｒ）的转换突变，先证者与其弟、其母均发现有此异常。结论 表明该突变为一遗传性突变。查阅基因库，未发现相同突变报道。
Objective To understand the characteristics of COL4AS gene mutations in X-linked dominant (XD) gene Alport syndrome (AS) in China. Methods Peripheral blood DNA samples from 10 members of 7 XD-AS pedigrees and 100 normal controls were detected by PCR-DGGE and direct sequencing. Detection of exon 43 of COL4A5 gene. Results A mutation in 4142C → T (Pro1314Ser) was found in one pedigree. The probands and their females found abnormalities in their mothers. The conclusion indicates that the mutation is a hereditary mutation. Access to the gene pool, did not find the same mutations reported.