Mutational analysis of COL4A5 gene in Korean Alport syndrome
Mutational analysis of COL4A5 gene in Korean Alport syndrome
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DOI：
10.1007/s004670050025
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发表时间：
2000-02-01
影响因子：
3
通讯作者：
Choi, Y
中科院分区：
文献类型：
--
作者：
Cheong, HI;Park, HW;Choi, Y
X连锁Alport综合征（AS）中COL 4A 5基因的突变分析需要昂贵且耗时的程序，检测率最多为50%。已经有三个多中心的合作研究突变分析的COL 4A 5基因使用系统筛选的整个编码区的基因。这是一项在韩国单中心进行的类似研究，研究纳入了25例经病理学确诊的不相关韩国AS患者。通过聚合酶链反应/单链构象多态性分析对该基因的所有51个外显子进行系统筛查，在10名无关患者中检测到10个突变。这些包括一个涉及外显子49-51的中等大小的缺失，一个单碱基对缺失，一个无义点突变，一个剪接位点突变和六个错义点突变。在6个错义突变中，4个涉及甘氨酸残基，破坏了胶原结构域中的Gly-X-Y重复序列。突变的总检出率为40%。尽管由于一些实际和技术问题，AS的DNA分析目前不适用于常规临床诊断，但在不久的将来，它很可能取代形态学诊断。
Mutational analysis of the COL4A5 gene in X-linked Alport syndrome (AS) requires an expensive and time-consuming procedure with a detection rate of 50%, at best. There have been three multicenter collaborative studies of mutation analysis in the COL4A5 gene using systematic screening of entire coding regions of the gene. This is a similar study executed in a single center in Korea, Twenty-five unrelated Korean patients with AS in whom the diagnosis was confirmed pathologically were included in the study. By systematic screening of all 51 exons of the gene using polymerase chain reaction/single-strand conformation polymorphism analysis, ten mutations were detected in 10 unrelated patients. These included one medium-sized deletion involving exon 49-51, one single base pair deletion, one nonsense point mutation, one splice site mutation, and six missense point mutations. Of the six missense mutations, four involved a glycine residue and disrupted the Gly-X-Y repeats in the collagenous domain. The overall detection rate of mutations was 40%. Although DNA analysis in AS is currently not applicable to routine clinical diagnosis due to several practical and technical problems, it is likely to replace morphological diagnosis in the near future.