[Genetic analysis in a Chinese deaf-mute family with X linked recessive inheritance]

Yi Chuan. 2004 Sep;26(5):579-83.
[Article in Chinese]

Abstract

In studying genetic factors in hearing loss among Chinese hearing-impaired population, a Chinese family with deaf-mute that had been reversion inherited through five generations was found (named pedigree L021). X linked recessive inheritance was hypothesized to be the transmission in this family. A total of 64 members in this family were investigated. Of these, audiometric evaluation was performed on 31 members, including 8 males with deaf-mute. Most affected individuals showed deafness or profound sensorineural hearing loss. Blood samples were obtained from 31 consented individuals in this family. Pedigree analysis indicates a X-linked recessive inheritance pattern in pedigree L021. The pedigree described herein provides an excellent model for further study on the molecular mechanism of congenital deaf-mute.

Publication types

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

MeSH terms

  • Adult
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, X*
  • Deafness / genetics*
  • Genes, Recessive*
  • Humans
  • Male
  • Middle Aged
  • Pedigree