[Gene mapping of a nonsyndromic hearing impairmint family]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2003 Apr;20(2):89-93.
[Article in Chinese]

Abstract

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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping / methods
  • Chromosomes, Human, Pair 17 / genetics
  • Chromosomes, Human, Pair 18 / genetics
  • Chromosomes, Human, X / genetics
  • Consanguinity
  • Family Health
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Microsatellite Repeats
  • Pedigree