OBJECTIVE: To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations. METHOD: DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang. Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss. The coding region of GJB2 gene, SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). Mutations in GJB2 gene, SLC26A4IVS7-2 A>G, mtDNA 1494C>T and mtDNA1555 A>G were identified by sequencing analysis. RESULT: Allelic Frequency of the GJB2 35delG and SLC26A4IVS7-2 A>G mutations in Han deaf students were 7.4% and 10.1%, respectively, whereas not found in Uigur deaf groups. The difference was statistically significant. We did not find significant differences in GJB2 235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students. CONCLUSION: Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.
OBJECTIVE: To investigate the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang region and determine the relationship between ethnicity and mutations. METHOD: DNA were extracted from peripheral blood of 125 deaf patients from Urumqi and Korla special educational schools in Xinjiang. Audiologic examinations showed that all patients had severe to profound bilateral sensorineural hearing hoss. The coding region of GJB2 gene, SLC26A4 and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). Mutations in GJB2 gene, SLC26A4IVS7-2 A>G, mtDNA 1494C>T and mtDNA1555 A>G were identified by sequencing analysis. RESULT: Allelic Frequency of the GJB235delG and SLC26A4IVS7-2 A>G mutations in Han deaf students were 7.4% and 10.1%, respectively, whereas not found in Uigur deaf groups. The difference was statistically significant. We did not find significant differences in GJB2235 delC, 299-300delAT, mtDNA A1555G and C1494T allelic frequency between Uigur and Han students. CONCLUSION: Prevalence of the recurrent mutations between Uigur and Han ethnic deaf group in Xinjiang has a great diversity.