常见耳聋基因在大连地区语前聋患者与耳聋高危人群中的检测分析

摘要

目的：分析常见耳聋基因突变在大连地区耳聋患者与耳聋高危人群中的分布。方法应用遗传性聋基因芯片，对大连地区持残疾证的1～30岁语前聋患者770例及耳聋高危人群362例进行 GJB2、GJB3、SLC26A4、mtDNA12SrRNA基因的9个突变位点的检测。结果语前聋患者常见耳聋基因的携带率42．99％（331／770）高于耳聋高危人群（27．35％，99／362）；语前聋患者GJB2携带率23．51％（181／770）高于耳聋高危人群（14．09％，51／362）；语前聋患者SLC26A4携带率18．57％（143／770）高于耳聋高危人群（8．84％，32／362）（ P＜0．005）；语前聋患者中GJB2和SLC26A4纯和突变和复合杂合突变发生率为24．16％（186／770），耳聋高危人群中未发现纯和突变和复合杂合突变；耳聋高危人群mtDNA 12SrRNA的携带率3．87％（14／362）明显高于语前聋患者（0．91％，7／770）（P＜0．005）。耳聋高危人群中发现 GJB3基因突变携带者2例（0．55％，2／362）。结论SLC26A4、GJB2纯合及复合杂合基因突变携带是导致大连地区1～30岁持残疾证的语前聋患者发病的主要致聋基因。%Objective To study the distribution of common deafness gene mutations in the deafness patients and the high risk population in Dalian ,and to provide a basis for understanding the genetic causes and characteristics of the deaf .Methods A deafness gene test chip was used to examine 9 hot mutations in the GJB2 ,GJB3 ,SLC26A4 and mtDNA 12SrRNA genes in 770 cases of deafness patients and 362 cases of high risk population .Results The carrying rates of common deafness genes in the deafness patients were 42 .99% (331/770) ,and 27 .35% (99/362) in the high risk population .The carrying rates of GJB2 in the deafness patients 23 .51% (181/770)were more than that in the high risk population14 .09% (51/362)(P<0 .005) .The carrying rates of SLC26A4 in the deafness pa‐tients of 18 .57% (143/770)were higher than that in the high risk population of 8 .84% (32/362)(P<0 .005) .The carrying rates of GJB2 and SLC26A4homozygous genes and compound heterozygous genes in the deafness patients were 24 .16% (186/770) .There was no cases in the high risk population .But the carrying rates of 12SrRNA mtD‐NA in the high risk population of 3 .87% (14/362)were significantly higher than that in the deafness patients of 0 .91% (7/770) (P<0 .005) .Only 2 cases for GJB3 gene mutation were found in the high risk population of 0 .55%(2/362) .Conclusion The homozygous genes and compound heterozygous genes are the major causes of the prelingual deafness in Dalian .