[Nonsyndromic deafness and mitochondrial DNA mutation].
OBJECTIVE
To analysis whether there is any mtDNA 1555A-->G homoplasmic point mutation among familial nonsyndromic deafness.


METHODS
Polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) were used to screen the mutation 1555A-->G among four nonsyndromic deafness families.


RESULTS
The same mutations were checked out in 4 of 5 individuals in 1 of 4 families.


CONCLUSIONS
The 1555A-->G change on mtDNA might be one of the multiple genetic defects and pathogenetic of familial nonsyndromic deafness.
Liu
Y H
YH
First Hospital, Beijing Medical University, Beijing 100034.
Ke
X M
XM
Gu
Z P
ZP
D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation
D004272:DNA, Mitochondrial