摘要
Objective: To map the gene responsible for nonsyndromic hearing impairment in a consanguineous family. Methods: Firstly, X chromosome scanning was used to exclude X chromosome. Secondly, candidate gene analyzing and genome scanning were performed by homozygosity mapping. Then, additional markers flanking the tightly linked marker were tested to confirm linkage and decide the candidate region. Results: The nonsyndromic hearing impairment of this family was autosomal recessive. Twenty-five known genes were excluded. Autosomal genome scanning indicated that D17S1293 was tightly linked with disease gene. And further study mapped the disease gene to a 5. 07 cM interval bounded by D17S1850 and D17S1818. Conclusion: The disease gene of the family is mapped to a 5. 07 cM interval between D17S1850 and D17S1818, which is a new locus of autosomal recessive nonsyndromic hearing impairment.
| 源语言 | 英语 |
|---|---|
| 页(从-至) | 89-93 |
| 页数 | 5 |
| 期刊 | Chinese Journal of Medical Genetics |
| 卷 | 20 |
| 期 | 2 |
| 出版状态 | 已出版 - 4月 2003 |
| 已对外发布 | 是 |
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探究 'Gene mapping of a nonsyndromic hearing impairment family' 的科研主题。它们共同构成独一无二的指纹。引用此
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