Mitochondrial DNA A1555G mutation of seven families with nonsyndromic hearing loss.
- VernacularTitle:七个非综合征型耳聋家系患者的mtDNA A1555G突变性质与特点
- Author:
Qi-shui OU
1
;
Zu-jian CHENG
;
Bin YANG
;
Lin JIANG
;
Jing CHEN
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Aged; Aged, 80 and over; Child, Preschool; DNA, Mitochondrial; genetics; Female; Gene Dosage; Hearing Loss; genetics; pathology; Humans; Infant; Male; Middle Aged; Pedigree; Point Mutation; Young Adult
- From: Chinese Journal of Medical Genetics 2009;26(5):550-554
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study mitochondrial DNA (mtDNA) A1555G mutation in seven families with nonsyndromic hearing loss (NSHL).
METHODSPolymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and real time-amplification refractory mutation system-quantitative PCR (ARMS-qPCR) were applied to detect mtDNA A1555G mutation in seven NSHL families. Related clinical data were also collected and analyzed.
RESULTSThe mtDNA A1555G mutation was detected in members from the maternal side, including heteroplasmy and homozygosis, others were negative for this mutation. The copy number of homoplasmic or heteroplasmic mutations of mtDNA A1555G correlated well with the degree of deafness (R = 0.341, P = 0.022 and R = 0.85, P = 0.015, respectively).
CONCLUSIONThe mutation rate of the mtDNA A1555G is high in the NSHL patients, the mutation type include heteroplasmy and homozygosis. There is significant correlation between the mtDNA A1555G copy number and the severity of hearing loss.
