title: [Genetic analysis in a Chinese deaf-mute family with X linked recessive inheritance].
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.
authors.affiliation: Institute of Otolaryngology, Department of Otorhinolaryngology/Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, China. wqcr@263.net
authors.forename: Qiu-Ju
authors.initials: QJ
authors.lastname: Wang
authors.forename: Wei-Yan
authors.initials: WY
authors.lastname: Yang
authors.forename: Zi-Ming
authors.initials: ZM
authors.lastname: Wu
authors.forename: Qing-Zhong
authors.initials: QZ
authors.lastname: Li
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Guo
authors.forename: Chun-Yan
authors.initials: CY
authors.lastname: Qiu
mesh_terms: 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