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Published on: August 15, 2019
[Genetic analysis in a Chinese deaf-mute family with X linked recessive inheritance]
Qiu-Ju Wang1, Wei-Yan Yang, Zi-Ming Wu
1Institute of Otolaryngology, Department of Otorhinolaryngology/Head and Neck Surgery, Chinese PLA General Hospital, Beijing 100853, China. wqcr@263.net
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.
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