Plant K E, Green P M, Vetrie D, Flinter F A
Division of Medical and Molecular Genetics, UMDS, Guy's Hospital, London, UK.
Hum Mutat. 1999;13(2):124-32. doi: 10.1002/(SICI)1098-1004(1999)13:2<124::AID-HUMU4>3.0.CO;2-Z.
Alport syndrome (AS) can be caused by mutations in COL4A5, one of the six type IV collagen genes. For the purposes of confirming diagnoses, carrier screening and correlating genotype to phenotype, we have screened all 51 exons of this gene by SSCP analysis in 153 families with suspected AS. Mutations were identified in 77 families (of which 20 have previously been reported) and are reported with all available clinical information. All types of mutation were found (missense, nonsense, splicing, small and large deletions and insertions), with the commonest type being those affecting glycine residues in the collagen triple helix. Our 50% detection rate is similar to that of other groups and may imply the presence of mutations outside of the COL4A5 coding region or the existence of a second X-linked AS gene.
奥尔波特综合征（AS）可由IV型胶原六个基因之一的COL4A5突变引起。为了确诊、进行携带者筛查以及将基因型与表型相关联，我们通过单链构象多态性分析（SSCP）对153个疑似AS家庭的该基因全部51个外显子进行了筛查。在77个家庭中发现了突变（其中20个此前已有报道），并报告了所有可用的临床信息。发现了所有类型的突变（错义、无义、剪接、小的和大的缺失及插入），最常见的类型是影响胶原三螺旋中甘氨酸残基的突变。我们50%的检出率与其他研究组相似，这可能意味着在COL4A5编码区之外存在突变，或者存在第二个X连锁AS基因。
