2010 Fiscal Year Final Research Report
The analysis of hearing loss mechanism affected from the combination with GJB2 and GJB6
| Project/Area Number |
19791195
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Otorhinolaryngology
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
ITO Taku Tokyo Medical and Dental University, 耳鼻咽喉科, 助教 (40401400)
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| Project Period (FY) |
2007 – 2010
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| Keywords | 遺伝学 / 遺伝子 / ゲノム / 神経科学 / 難聴 |
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| 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.
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