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首页> 外文期刊>Journal of genetics >Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family
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Mutation analysis of COL4A3 and COL4A4 genes in a Chinese autosomal-dominant Alport syndrome family

机译：中国常染色体显性Alport综合征家族中COL4A3和COL4A4基因的突变分析

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Autosomal dominant Alport syndrome (ADAS) accounts for 5% of all cases of Alport syndrome (AS), a primary basement membrane disorder arising from mutations in genes encoding the type IV collagen protein family.Mutationsin COL4A3 and COL4A4 genes were reported to be associated with ADAS. In this study, clinical data in a large consanguineous family with seven affected members were reviewed, and genomic DNA was extracted. For mutationscreening, all exons of COL4A3 and COL4A4 genes were polymerase chain reaction-amplified and direct sequenced from genomic DNA, and the mutations were analyzed by comparing with members in this family, 100 ethnicitymatchedcontrols and the sequence of COL4A3 and COL4A4 genes from GenBank. A novel mutation determining a nucleotide change was found, i.e. c.4195 AT (p.Met1399Leu) at 44th exon of COL4A4 gene, and this mutationshowed heterozygous in all patients of this family. Also a novel intron mutation (c.4127+11 CT) was observed at COL4A4 gene. Thus the novel missense mutation c.4195 AT (p.Met1399Leu) and the intron mutation (c.4127+11CT) at COL4A4 gene might be responsible for ADAS of this family. Our results broadened the spectrum of mutations in COL4A4 and had important implications in the diagnosis, prognosis, and genetic counselling of ADAS.
机译：常染色体显性遗传性Alport综合征（ADAS）在所有Alport综合征（AS）病例中占5％，这是由编码IV型胶原蛋白家族的基因突变引起的原发性基底膜疾病。据报道，COL4A3和COL4A4基因的突变与ADAS。在这项研究中，回顾了一个有7个受影响成员的大型近亲家庭的临床数据，并提取了基因组DNA。为了进行突变筛选，对COL4A3和COL4A4基因的所有外显子进行了聚合酶链反应扩增，并从基因组DNA直接测序，并与该家族成员，100个种族匹配的对照以及GenBank的COL4A3和COL4A4基因的序列进行了比较，分析了突变。发现一种确定核苷酸变化的新突变，即在COL4A4基因第44外显子处的c.4195 A> T（p.Met1399Leu），并且该突变在该家族的所有患者中均显示为杂合性。在COL4A4基因上也观察到了一个新的内含子突变（c.4127 + 11 C> T）。因此，新的错义突变c.4195 A> T（p.Met1399Leu）和COL4A4基因的内含子突变（c.4127 + 11C> T）可能是这个家族的ADAS的原因。我们的结果拓宽了COL4A4突变的范围，对ADAS的诊断，预后和遗传咨询具有重要意义。

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