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通过PCR和直接测序的方法 ,对一性连锁Alport综合征家系 17个受检个体的COL4A5基因所有 5 1个外显子及其相邻内含子的DNA序列进行检测。结果发现 ,在第 2 6外显子 2 2 4 0位点 ,男患者存在C碱基缺失(2 2 4 0delC) ,女患者存在杂合缺失 ,同时对女患者相应的PCR产物进行克隆和测序以验证PCR测序结果的可靠性 ,而在正常家系成员和 80例对照中均未发现此位点异常 ,说明 2 2 4 0delC为引起该家系临床病变的突变位点 ,不是多态性位点。在性连锁Alport综合征中 ,COL4A5基因的这个单碱基缺失突变位点为首次报道
The DNA sequences of all 5 exons and their adjacent introns of COL4A5 gene were detected by PCR and direct sequencing in 17 subjects in Alpin syndrome family. The results showed that there was a C-base deletion (2240deldelC) in male patients at the 24th exon 2 of exon 2 and a heterozygous deletion in female patients. Meanwhile, the corresponding PCR products of female patients were cloned and sequenced To verify the reliability of PCR sequencing results, and no abnormalities in the normal family members and 80 controls, indicating that 2 2 4 0delC is caused by the clinical pathological changes of the family of sites, not polymorphic sites. In the sex-linked Alport syndrome, the single-base deletion mutation of COL4A5 is the first reported