X-linked Alport syndrome : Mutation survey over all 51 exons of the COL4A5 gene

Alport综合征是一种遗传性疾病，以进行性肾炎为特征，伴有肾小球基底膜(GBM)的超微结构编织改变和神经感觉性耳聋。最常见的X连锁Alport综合征是由编码IV型胶原α5链(alpha5(IV))的Col4A5基因突变引起的。一些研究小组已经对Col4A5基因的全部51个外显子进行了突变分析。然而，这些调查都是利用基因组DNA进行SSCP分析，突变的检测率不到50%。本研究采用逆转录-聚合酶链式反应(RT-PCR)技术对COL4A5基因的全部51个外显子进行突变检测，并用mRNA法进行直接测序，在所有男性患者和78%的女性患者中检测到突变。我们的结果有助于设计一种更好的策略来识别X连锁Alport综合征的突变，并促进基因型与表型的相关性。

Alport syndrome is an inherited disorder characterized by progressive nephritis with ultrastructural basket-weave changes of the glomerular basement membrane (GBM) and neurosensory deafness. The most frequent type, X-linked Alport syndrome is caused by mutations in the COL4A5 gene encoding the type IV collagen alpha5 chain (alpha5 (IV) ).Mutation analysis of all 51 exons of the COL4A5 gene has been performed by some groups. However, These surveys were performed by SSCP analysis using genomic DNA and the detection rate of mutations was less than 50%. In this study we performed mutation survey over all 51 exons of the COL4A5 gene by reverse transcription-polymerase chain reaction (RT-PCR) and direct sequence using mRNA.Mutations were detected in all male patients and 78% of female patients. Our result help in the design of a better strategy for mutation identification in X-linked Alport syndrome and facilitate genotype-phenotype correlations.