| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2014: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Fiscal Year 2013: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Outline of Final Research Achievements |
This study was approved by the ethics committee of Kobe University and the informed consents were obtained from all participants. Here we report three major results from 2013 to 2014 as shown in below.
1) Two hundred six cases including 115 cases from 105 families of syndromic CAKUT and 91 cases from 82 families of non-syndromic CAKUT, together with some indistinguishable cases from CAKUT, were collected and classified by the clinical phenotypes. 2) Responsible genes and genetic regions for 62 cases from 44 families were identified using the Sanger sequencing in combination with the next generation sequencing (NGS) and the DNA microarray. 3) Further NGS approach using a CAKUT-specific panel we originally developed was helpful to identify responsible/candidate genes which were unpredictable from the clinical phenotypes.
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