The screening of four common deafness gene mutations spectrum in Uigur and Han patients with non-syndromic deafness in Xinjiang Autonomous Region

Objective To investigate the prevalence and frequency of the common mutations in Uigur non-syndromic deafness group in Xinjiang Uigur Autonomous Region of China, by means of screening nine mutations of four known deafness genes. Methods One hundred eighty-four Uigur patients and 133 Han patients with non-syndromic hearing loss were enrolled in this study. The screening was performed on GJB2, GJB3, mtDNA 12S rRNA and SLC26A4 deafness genes of 35delG, 176de116,235de1C ,299-300delAT,538C ＞ T, 1555A ＞ G, 1494C ＞ T,2168A ＞ G, IVS7-2A ＞ G in these two groups, by means of genic microarray. Results The totlal mutation rate found in the Uigur deafness groups was 12. 50%, significantly different from that in the Han deafness groups (30. 83% ,χ2 = 16. 092 ,P ＜0. 01 ). The GJB2 mutation rate in the Uigur deafness groups was 9. 24%, not significantly different from that in the Han deafness groups ( 14. 29% ,χ2 = 1. 953 ,P ＞0. 05 ). The mutation rate of SL C26A4 was 1.63% and 13.53% respectively in Uigur and Han deafness groups, and has significant difference (χ2 = 17. 683, P ＜ 0. 01 ). The mt DNA 12S rRNA mutation rate in the Uigur deafness groups was 1.63%, not significantly different from that in the Han deafness groups (3.01%, χ2 = 0. 175, P ＞ 0. 05 ). The GJB3 mutation rate of these two deafness groups was very low, shown as 0. 75% and 0 respectively. Conclusions The mutation rate of common deafness genes is lower in the Uigar nonsyndromie deafness group, and the mutation rate of SLC26A4 genes is significantly lower than that in the Han deafness groups. The most common mutation in four known deafness genes is GJB2, whose favorite spots are 235delC and 35delG. Key words: Deafness;  Connexins;  Membrane transport proteins;  RNA, ribosomal; Mutation;  Oligonucleotide array sequence analysis