|Alternative Title||Characteristic analysis of frequent deafness-correlative genes mutation in Hui nationality patients with non-syndromic hearing loss from Northwest China
|Place of Conferral||兰州
|Other Abstract||Deafness is the most significant cause of linguistic barrier, the causes of which including inherit(60-80%) and environmental factors. Nonsyndromic sensorineural hearing loss(NSHL) accounts for 70% in inherit factors.To date, the study showed that mitochondria DNA 12Sr RNA1555A>G, GJB2 and SLC26A4 gene are the most common deafness- related-genes of NSHL. Lots of studies proved that the mutation frequency and mutation pattern are disparate in different areas and races. Hui, the descendant of the Arabs, now more than half of which live in Northwest China. So far, there was no detailed research report about Hui ethnic group, in this study we collected 420 Hui NSHL patients to discuss the hot-spot mutation, frequency and the relation-ship betweem characteristic of genes mutation and origin of the hui nationality ,the results of which will provides the epidemiology basis on molecular etiology and genetic counseling for this population.
Mitochondria DNA 12Sr RNA1555A>G mutation is the molecular etiology of aminoglycoside antibiotic-induced deafness(AAID）, we analysis the clinical etiology of all patients. Genetic testing showed that 11(2.62%) cases were caused by m.1555A>G homozygous mutation in 420 patients with NSHL, 6 of whom had a specific history of AmAn(6/11=54.55%), and one case was doubtful. Therefore, there has a great significance of m. 1555A>G gene screening in order to prevent the deafness occurring in Hui population in Northwest China.At the same time ,we analysis the characteristic of GJB2 and SLC26A4 genes mutation in 420 Hui ethnic group patients with NSHL and draw the map of GJB2 gene mutation ,investigate the mutation frequency and forms of two genes. Results showed that 41(9.76%) cases,including homozygote and compound heterozygote,were caused by GJB2 gene mutation, which was the most frequent deafness-related gene.The allel frequency of c.235delC accounts for 6.90% ,as well as the most frequent(51.33%) mutational pattern in GJB2 gene.20 patients(4.76%) were found carring two allel mutations in SLC26A4 gene.The allel frequency of c.919-2A>G is 5.0%,accounts for a total of 68.85% in all base alterations of SLC26A4 gene,is the major mutant form of SLC26A4 gene.
Through this study we can provide the molecular epidemiology basis for Hui ethnic group patients with NSHL from Northwest China in genetic diagnosis，genetic counseling and therapy by associated testing of the involved three genes.|
马建鹂. 中国西北地区回族非综合征型耳聋患者常见聋病[D]. 兰州. 兰州大学,2013.
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