[Genetic analysis in a Chinese deaf-mute family with X linked recessive inheritance].
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.
Wang
Qiu-Ju
QJ
Institute of Otolaryngology, Department of Otorhinolaryngology/Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, China. wqcr@263.net
Yang
Wei-Yan
WY
Wu
Zi-Ming
ZM
Li
Qing-Zhong
QZ
Guo
Wei-Wei
WW
Qiu
Chun-Yan
CY
D000328:Adult; D002675:Child, Preschool; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D003638:Deafness / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree