[An extensive matrilineal nonsyndromic sensorineural deafness family and mtDNA 12SrRNA gene mutation].
OBJECTIVE
To investigate the possible cause and molecular genetic mechanism of matrilineal nonsyndromic sensorineural deafness, the authors analyzed an extensive matrilineal nonsyndromic sensorineural deafness family.


METHODS
PCR amplification of the nt1555 and nt7445 of the mitochondrial DNA, combined with PCR-SSCP, PCR-RFLP and sequence to analyze the family.


RESULTS
The authors found a homoplasmic A to G transition at position 1555(A1555G) of the mitochondrial 12SrRNA gene from all the patients, and four matrilineal relatives of this family, but the mutation was not found in the normal spouses of the family and controls (100 normal persons).


CONCLUSIONS
The A1555G mutation may be one of the major factors that cause deafness in this family.
Yan
M
M
Department of Biology, Nanjing Normal University, Nanjing, Jiangsu, 210097 P.R. China. yan_ming@hotmaill.com
Liu
N
N
Shan
X
X
Xin
G
G
Pu
X
X
Wu
J
J
Yang
H
H
D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012335:RNA, Ribosomal / Q000235:genetics*
D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S