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Gene mapping of a nonsyndromic hearing impairment family

  • Lin Cheng
  • , Yao qin Gong
  • , Qi ji Liu
  • , Bing xi Chen
  • , Chen hong Guo
  • , Jiang xia Li
  • , Xi yu Zhang
  • , Yong Lu
  • , Gui min Gao
  • , Hai bin Zhou
  • , Yi shou Guo
  • Shandong University

科研成果: 期刊稿件文章同行评审

3 引用 (Scopus)

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
20
2
出版状态已出版 - 4月 2003
已对外发布

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