| Budget Amount *help |
¥3,700,000 (Direct Cost: ¥3,700,000)
Fiscal Year 2006: ¥1,800,000 (Direct Cost: ¥1,800,000)
Fiscal Year 2005: ¥1,900,000 (Direct Cost: ¥1,900,000)
|
|---|
| Research Abstract |
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.
|
