A literature review of epidemiological studies on mutation hot spots of Chinese population with non-syndromic hearing loss / 临床耳鼻咽喉头颈外科杂志

ABSTRACT

OBJECTIVE@#To identify the regional mutation hot spots characteristics, and then to establish a regional genetic screening programs.@*METHOD@#Molecular epidemiological literatures about Chinese deafness gene GJB2, SLC26A4, mitochondrial DNA mutations from 2006 to the first half of 2011 were retrieved in Wanfang and Pubmed literature database. The primary data of these studies including the number of samples, demographic characteristics, mutation frequencies and so on,were analyzed statically.@*RESULT@#Of 46 papers, 42 were included in this study. The patients all had non-syndromic sensorineural hearing loss and lived in 20 regions of China. A total of 18094 were counted and the average mutation frequencies were approximately 42.0%. The mutation frequencies of 235 delC were 16.34%, 299-300 delAT were 4.75% in GJB2 gene and IVS7-2A > G were 12.60%, 2168A > G were 2.32% in SLC26A4 gene and the mutation frequencies of 1555A > G, 1494C > T in mtDNA were 5.21%, 1.11% respectively. The statistical discrepancy was significant among mutation frequencies in different regions by chi2-test (P < 0.05).@*CONCLUSION@#Molecular epidemiological statistics show that the 6 locus are the mutation hot spots in Chinese people with non-syndromic hearing loss and can be used for genetic screening according to the specific regional mutation characteristics.