2011 Fiscal Year Final Research Report
Identification of autosomal recessive deafness causing gene mapped on chromosome7 by the whole genome linkage analysis
| Project/Area Number |
21791645
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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 | Keio University |
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Principal Investigator |
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| Project Period (FY) |
2009 – 2011
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| Keywords | 非症候群性難聴 / 家族性難聴 / 連鎖解析 / 変異探索 |
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| Research Abstract |
I have mapped an autosmal-recessive nonsyndromic deafness locus(DFNB78) to an 8. 7-Mb interval on human chromosome 7q21. 11-q21. 13 by whole genome linkage analysis of a large Turkish family. Furthermore, I have narrowed down the DFNB78 locus by the homozygosity mapping using SNPs in the candidate region. During I was performing mutation search on the 11 candidate genes, it was reported that the cause of DFNB39 which was previously mapped in 18-Mb region on 7q11. 22-q21. 12 by the linkage analysis of the Pakistani family is the mutation of non-coding region in a hepatocyte growth factor(HGF) gene. In the DFNB78 family, I found exactly the same 3-bases deletion in intron4(c. 482+1986_1988delTGA) of HGF gene. I considered this mutation a common founder mutation in South Asia and the Near and Middle East.
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