Genomic Analysis of Human Aquaporin Genes

我们分析了人类水通道蛋白（AQP 3，6，10，11，12）外显子的SNP，使用50名健康志愿者，经千叶国立医院伦理委员会批准。结果表明，AQP 3基因有5个SNP位点，其中2个为非同源性SNP位点AQP 6有3个SNPs，均为非同源性AQP 10有7个SNPs，其中4个为非同源性SNPs AQP 11有2个SNPs，其中1个为非同源性（G>S）; AQP 12有5个SNPs，其中3个为非同源性（G>S）AQP 3、AQP 6、AQP 10和AQP 12可能是非功能性突变，而AQP基因敲除小鼠和人的

We analyzed human aquaporins (AQP3, 6, 10, 11, 12) for SNP in exons using fifty healthy volunteers after the approval of ethical committee of Chiba National Hospital. SNPs were identified by direct-sequencing PCR products covering human AQP exons.AQP3 had 5 SNPs including 2 nonsynonimous SNPs (N>D, M>V).AQP6 had 3 SNPs, all nonsynonimous (S>A, I>S, I>V).AQP10 had 7 SNPs including 4 nonsynonimous SNPs (R>Q, R>C, V>I, H>Y).AQP11 had 2 SNPs including one nonsynonimous (G>S).AQP12 had 5 SNPs including 3 nonsynonimous SNPs (A>T, Q>E, M>T).Some of them may be non-functional mutation as some AQP knockout mice and human are apparently normal : AQP3, AQP6, AQP10 and AQP12.A portion of these results were reported at the annual meeting of Japanese Society of Nephrology 2006.