Common Deafness Gene Characteristics Analysis Using SNPpscan Method Among Non-syndrome Type Deafness Patients From The Major Minority Nationalities In Xinjiang

Objective To investigate the prevalence and characteristics of Common deafness gene mutations using SNPscan method in Uygur, Hui, Kazak and Kirgiz nationalities patients with non-syndromic hearing loss(NSHL) from Xinjiang Uygur Autonomous Region of China.Methods We collected565patients with moderately severe to profound sensorineural hearing loss,including Uygur, Hui, Kazak and Kirgiz nationalities, from12cities of Xinjiang. After informed consent was signed, peripheral blood samples were obtained to extract genomic DNA. Common pathogenic GJB2gene, SLC26A4gene and mtDNA gene mutations were detected by using SNPscan classification technology, followed by statistical analysis. The mutation frequencies of above three genes and hot spot mutations in various nationalities were studied. The results were compared with our previous study which has done in401NSHL patients from Xinjiang Uygur Autonomous Region from the test method of mutation characteristics.Results1.The mutated allele frequency of GJB2in Uygur, Hui, Kazak and Kirgiz nationalities NSHL patients were10.16%(87/856),15.85%(13/82),10.16%(13/128) and1.56%(1/64), respectively. And these difference is statistically significant(x2=8.140, P=0.043). The commonest mutation in Chinese deaf population c.235delc was just found in the uygur and hui, the allele frequency of5.14%(44/856) and13.41%(11/82), respectively. And c.35de1G was found in Uyhur,hui kazak and kirgiz, allele frequencies were3.15%(27/856),1.21%(1/82),8.59%(11/128) and1.56%(1/64). c.235de1C were mutation hot spot in Uygur and Hui NSHL patients,and c.35de1G were mutation hot spot in in Uygur, Kazak and Kirgiz nationalities NSHL patients. Other mutations found in GJB2were c.299300delAT、c.313326de114’ c.9G>A、 c.176191de116、 c.427C>T、c.IVS1+1G>A、 c.109G>A、 c.368C＞A and c.380G>A. 2.The pathogenic mutated allele frequency of SLC26A4gene in Uygur, Hui, Kazak and Kirgiz nationalities NSHLpatients were7.71%(66/856),13.41%(11/82),5.47%(7/128) and1.56%(1/64),respectively. And these difference is statistically significant(x2=8.180, P=0.042). c.919-2A>G and c.2027T>A were mutation hot spot in Uygur nationalities NSHL patients, and c.919-2A>G were mutation hot spot in Hui, Kazak and Kirgiz nationalities NSHL patients. Other mutations found in SLC26A4were c.28C＞T、 c.589G>A、 c.1174A>T、c.1229C＞T、c.1975G>C、 c.2168A>G、 c.l09G>T、c.147O＞G、 c.170C＞A、 c.387delC. C.1343C＞T and c.2162C＞T.3. The mutation frequency of mtDNA1555A>G among Uygur, Hui, Kazak and Kirgiz nationalities NSHL patients were2.34%(10/428),2.44%(1/41),1.56%(1/64) and0%(0/32), respectively, And difference between the various nationalities was no statistically significant (P>0.05).Conclution1.The mutation spectrum had a certain difference of GJB2gene,SLC26A4gene and mtDNA gene among Uygur, Hui, Kazak and Kirgiz nationalities NSHL patients in Xinjiang Uygur Autonomous Region,and these mutations had ethnic specificity with each other.2. GJB2, SLC26A4and mtDNA gene common mutations was detected successfully using SNPscan method, And SNPscan can test multiple mutations in a testing process for testing at the same time, which is a propriate methond for deafness gene screening among xinjiang national minority.