一性连锁Alport综合征中国家系COL4A5基因新突变位点的检测

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51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26外显子2240位点，男患者存在C碱基缺失(2240delc)，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2240delc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。

Detection of a Novel Mutation in COL4A5 Gene from a Chinese Family with X-linked Alport Syndrome

By means of PCR and direct sequencing,all 51 exons and their neighbouring intronic sequences of the COL4A5 gene were analyzed to detect mutations in 17 members from a Chinese family with X-linked Alport syndrome(XLAS).At the position 2240 in exon 26,a single-base deletion(2240delC) is found in all male patients,and a heterozygous deletion is found in all female patients,whereas no mutation is found in normal and 80 control individuals.Meanwhlie,the corresponding PCR products of female patients are cloned and sequenced to confirm the results.It is concluded that the 2240delC mutation is the underlying cause of XLAS in this family,not a polymorphism.Furthermore,this single-base deletion mutation in COL4A5 gene is first reported in X-linked Alport syndrome.