[Mutation analysis of 12S rRNA and tRNA-Ser(UCN) genes in a large Chinese family with maternally inherited nonsyndromic hearing loss by intermarriage].
OBJECTIVE
To identify the possible mutation at possible sites in different mitochondrial genes that leads to hearing loss in a large Chinese pedigree.


METHODS
Blood samples from a Hunan pedigree were obtained with informed consent. Genomic DNA was extracted from peripheral blood leukocytes using kit. The target fragments were amplified and detected by polymerase chain reaction (PCR) and directly sequencing respectively.


RESULTS
The result of direct sequencing revealed the A1555G mutation in 12S rRNA gene was inherited in this pedigree and no one has A7445G mutation or other mutations in its neighborhood region.


CONCLUSIONS
Sequence analysis confirmed that the pedigree carries the A1555G mutation. With some members ever exposure of aminoglycoside antibiotics, mutation of A1555G may play a pivotal role in the pathogenesis of hearing loss in the large pedigree.
Shu
An-li
AL
Huaihua Medical College, Huaihua, Hunan, 418000 PR China.
Ji
Bao-hu
BH
Qin
Wei
W
Feng
Guo-yin
GY
Nie
Yu-zheng
YZ
Liu
Tao
T
He
Lin
L
D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000737:chemistry / Q000235:genetics; D005192:Family Health; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008297:Male; D008393:Marriage; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012335:RNA, Ribosomal / Q000235:genetics*; D012362:RNA, Transfer, Ser / Q000235:genetics*
D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; D012362:RNA, Transfer, Ser; C075526:RNA, ribosomal, 12S