[Molecular etiology of non-syndromic hearing impairment in a Chinese family].
OBJECTIVE
To investigate the molecular etiology of non-syndromic hearing impairment in two patients in a maternal inherited deafness Chinese family.


METHODS
Peripheral blood specimens were collected and DNA templates extracted. The complete mitochondrial genomes and GJB2 gene were sequenced in an ABI 3100 Avant sequencer.


RESULTS
The proband (III-5) and her elder sister (III-1) were found to carry the mtDNA 12SrRNA C1494T mutation. The GJB2 gene showed no mutations. The proband had the history of using aminoglycosides before hearing loss, and exhibited severe sensorineural hearing impairment; the proband's sister had no history of using aminoglycosides, and showed moderate sensorineural hearing impairment.


CONCLUSIONS
The molecular etiology of each individual patient in a family yaries with individual genetic background.
Sun
Qing
Q
Department of Otorhinolaryngology, General Hospital of Chinese People's Armed Police Force, Beijing, China.
Shan
Xi-zheng
XZ
Ma
Li-tao
LT
Kang
Dong-yang
DY
Zhang
Xin
X
Liu
Xin
X
Wang
Guo-jian
GJ
Yuan
Hui-jun
HJ
Han
Dong-yi
DY
D000328:Adult; D044466:Asian People / Q000235:genetics; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D005260:Female; D034381:Hearing Loss / Q000209:etiology / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D017422:Sequence Analysis, DNA; D000076988:Sulfate Transporters
D017630:Connexins; D004272:DNA, Mitochondrial; C000607042:GJB2 protein, human; D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters; D000072259:Connexin 26