Mutation of genes associated with hearing loss levels in the southern Fujian area of China
نویسندگان
چکیده
Objective: The objective of this study is to examine loci’s mutation frequencies for the four widespread deafness-associated genes in Han Chinese with hearing loss in the southern Fujian region and to establish the correlation between hearing loss levels and nucleotide modifications. Methods: Microarray-based mutation was detected nine hot spot mutations of the most prevalent deafness-related genes, including GJB2, GJB3, SLC26A and mitochondrial 12S rRNA. The hearing loss individuals also underwent hearing tests and medical examinations. Results: The prevalence of mutations in GJB2 (13.90% vs. 0.44%, P<0.001), SLC26A (11.05% vs. 0.44%, P<0.001) and mitochondrial 12S rRNA (12.19% vs. 0.44%, P<0.001) in the 1085 hearing loss individuals was significantly higher than those in the 452 healthy individuals with no hearing loss. There was no difference between hearing loss individuals and controls with GJB3 mutations (P > 0.05). Furthermore, the frequency of the c. 235 del C mutation in GJB2 was 12.44% (135/1085), slightly higher than that of c. 299_300 del AT (1.20%) and others. The most common mutation in SLC26A4 was c. IVS7-2A > G (9.77%, 106/1085). The mutation rate of mtDNA 12S rRNA was 12.19% (132/1085), most of these being the m. 1555 A > G mutation (11.15%, 121/1085). Significantly, c. 235 del C or c. IVS7-2 > G mutations were grander in patients with severe and profound hearing loss levels, just the reverse of m. 1555 A > G mutation (P<0.05), the percentage of the mitochondrial 12S rRNA mutations group who were taking aminoglycoside was 42.42%, significantly higher than that of other groups (P<0.01). Conclusions: Our data indicated that c. 235 del C, c. IVS7-2A > G and m. 1555 A > G were the most frequent mutations of southern Fujian populations, and that there was a strong association between specific hotspot mutations (GJB2, SLC26A and mitochondrial 12S rRNA) with hearing loss levels. The degree of hearing loss associated with c. 235 del C and c. IVS7-2A > G was mainly mild to severe and profound, but for m. 1555 A > G the associated hearing loss was mainly mild to moderate.
منابع مشابه
Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family
Objective(s): Non-syndromic sensorineural hearing loss (NSHL) is a common disorder affecting approximately 1 in 500 newborns. This type of hearing loss is extremely heterogeneous and includes over 100 loci. Mutations in the GJB2 gene have been implicated in about half of autosomal recessive NSHL (ARNSHL) cases, making this the most common cause of ARNSHL. For the latter form of deafness, most f...
متن کاملInvestigating Seven Recently Identified Genes in 100 Iranian Families with Autosomal Recessive Non-syndromic Hearing Loss
Objectives: Hearing loss (HL) is the most common sensory disorder, and affects 1 in 1000 newborns. About 50% of HL is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. Up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (ARNSHL). In Iran, HL is one of the most common disabilitie...
متن کاملMutation Analysis of GJB2 and GJB6 Genes and the Genetic Linkage Analysis of Five Common DFNB Loci in the Iranian Families with Autosomal Recessive Non-Syndromic Hearing Loss
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far. The most common form of NSHL is the autosomal recessive form (ARNSHL). In this study, a cohort of 36 big ARNSHL pedigrees with 4 or more patients from 7 provinces of Iran was investig...
متن کاملStudy of frequency and spectrum of GJB2 gene mutations in non-syndromic hearing loss patients of Semnan province
Abstract Background and aim: The frequency of hearing impairment is one out of 500 newborn babies, worldwide. However, in Iran, due to the high prevalence of consanguineous marriages, this amount is estimated to be two to three times higher. So far, more than 120 genes causing non-syndromic Hearing loss (NSHL) have been identified in the world, of which GJB2 gene mutations are the most common c...
متن کاملMutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China
In China, approximately 30,000 babies are born with hearing impairment each year. However, the molecular factors causing congenital hearing impairment in the Xiamen area of Fujian province have not been evaluated. To provide accurate genetic testing and counseling in the Xiamen area, we investigated the molecular etiology of non-syndromic deafness in a deaf population from Xiamen. Unrelated stu...
متن کامل