[Molecular etiology of 573 patients with nonsyndromic hearing loss in 5 provinces of northwest region of China].
OBJECTIVE
To analyze the prevalence of an A-to-G mutation at nucleotide 1555 of the mitochondrial genome in patients with nonsyndromic hearing impairment (NSHI) of northwest region of China.


METHODS
A standardized program of epidemiological design, administrative support, sample collection and mutation screening for mtDNA 12SrRNA A1555G were used performed to study the general condition and the molecular etiology of patients with severe to profound hearing loss from 5 provinces of northwest region of China.


RESULTS
Five-hundred-seventy-three cases with severe profound hearing loss from 5 provinces were collected and 31 cases were found to carry mtDNA 12SrRNA A1555G mutation.


CONCLUSIONS
Among the patients with severe to profound hearing loss from 5 provinces of northwest region, there was a high proportion of hereditary hearing impairment caused by mtDNA 12SrRNA A1555G mutation. Screening and testing for this mutation are effective methods to prevent ototoxicity in A1555G carriers and their maternal family members.
Zhu
Qingwen
Q
Department of Otolaryngology-Head and Neck Surgery, Chinese PLA General Hospital, Beijing, 100853, China.
Liu
Xin
X
Han
Dongyi
D
Kang
Dongyang
D
Zhang
Xin
X
Jin
Zhengce
Z
Li
Mei
M
Dai
Pu
P
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D034381:Hearing Loss / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008297:Male; D012335:RNA, Ribosomal / Q000235:genetics*; D055815:Young Adult
D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; C075526:RNA, ribosomal, 12S