[Mutation analysis of gene CX31.1 in the hereditary hearing loss pedigrees].
OBJECTIVE
To make clear of the relation between CX31.1 and hereditary hearing loss by the mutation detect of gene CX31.1 in nonsyndromic hearing loss pedigrees.


METHODS
Thirty-seven pedigrees of autosomal recessive inheritance hereditary hearing loss and twenty-four pedigrees of autosomal dominant inheritance hereditary hearing loss were collected from decades provinces of China. By using polymerase chain reaction and direct sequence, we screened the members of this pedigrees for the mutations of gene CX31.1.


RESULTS
One polymorphism and one synonymous mutation of gene CX31.1 and two absent pieces in the introns of CX31.1 were found.


CONCLUSIONS
Though we have not found mutations of CX31.1 which can induce corresponding hereditary deafness of the pedigrees inspected before, we don't think we can deny gene CX31.1 is a nosogenesis gene of hereditary hearing loss, and what we can do is to collect enough pedigrees to continue our research.
Feng
Yong
Y
Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, 410008, China. fyong@xysm.net
He
Chufeng
C
Xia
Kun
K
Li
Qi
Q
He
Dinghua
D
D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree
D017630:Connexins; C464674:GJC3 protein, human; D009419:Nerve Tissue Proteins