| Project/Area Number |
19791195
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Otorhinolaryngology
|
|---|
| Research Institution | Tokyo Medical and Dental University |
|---|
Principal Investigator |
ITO Taku Tokyo Medical and Dental University, 耳鼻咽喉科, 助教 (40401400)
|
|---|
| Project Period (FY) |
2007 – 2010
|
| Project Status |
Completed (Fiscal Year 2010)
|
| Budget Amount *help |
¥4,050,000 (Direct Cost: ¥3,300,000、Indirect Cost: ¥750,000)
Fiscal Year 2010: ¥1,170,000 (Direct Cost: ¥900,000、Indirect Cost: ¥270,000)
Fiscal Year 2009: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2008: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2007: ¥800,000 (Direct Cost: ¥800,000)
|
|---|
| Keywords | 遺伝学 / 遺伝子 / ゲノム / 神経科学 / 難聴 / 遺伝子難聴 / 難聴遺伝子 / GJB2 / GJB6 / 耳鼻咽喉学 / 遺伝性難聴 |
|---|
| Research Abstract |
It turned out that hearing loss caused by GJB2 accounted for 18.6% of prelingual, 28% of congenital and 26.1% of autosomal recessive non-syndromic hereditary hearing loss, according to our study. In the genotype, 235delC accounted for 52.6% of mutant alleles, and G45E, Y136X, V37I, and R143W were also confirmed in Japanese. In the point of phenotype-genotype corelationship, 235delC homozygosis cause profound hearing loss, and the combination of non-truncating mutations show moderate hearing loss. On the other hand, any patients affected from the combination with heterozygous GJB2 and GJB6 mutation. Therefore, this mutation was thought to be little in the Japanese.
|
