【摘要】 目的通过耳聋基因筛查分析聋人家庭及高危夫妇耳聋基因突变类型并指导生育。方法 2014年6月—2015年8月在江苏省镇江市、泰兴市、如皋市、高邮市、涟水县和沭阳县6个孕前耳聋基因筛查项目点,对1 203例耳聋基因高危人群(聋人904例和非聋人299例),采用遗传性耳聋基因芯片进行检测。结果高危人群耳聋基因突变总携带率为48. 2%,其中聋人为48. 0%,非聋人为48. 8%,两者差异无统计学意义,而聋人和非聋人单一位点阳性的4个基因型构成比差异有统计学意义。在36个有聋人的家庭和108对高危人群夫妇中存在37个耳聋基因突变类型(74种组合),经对144例(个或对)聋人家庭和高危夫妇耳聋基因筛查分析,有101例存在生育聋儿的可能。结论对聋人家庭和高危夫妇进行耳聋基因筛查分析和生育指导能有效防止聋儿出生的发生风险。更多还原

【Abstract】 Objective To analyze the common deafness gene mutations among families with hearing loss history or high-risk couples using genetic screening and to provide clinical guidance for childbearing. Methods 1203 high-risk cases( including 904 subjects with hearing loss and 299 subjects without symptoms of hearing loss) were enrolled from six prenatal deafness genetic screening sites,including Zhenjiang,Taixing,Rugao,Gaoyou,Lianshui and Shuyang from June 2014 to August 2015. Subjects were screened for genetic mutations using heredity deafness gene chip. Results 48. 2% of high-risk subjects carry deafness gene mutations,while it’s 48. 0% among the subjects with hearing loss and 48. 8% among those without symptoms of hearing loss. There was no significant difference between the two groups. However,there was significant difference in 4 genotypes between the two groups. There were 37 types of deafness gene mutation( with 74 combinations) in 36 families with hearing loss and 108 high-risk couples. Further screening analysis demonstrated that 101 of them have the possibility to conceive children with hearing loss among those 144 families/high-risk couples.Conclusion Genetic screening for deafness gene among families with hearing loss history and high-risk couples and providing childbearing guidance could effectively prevent birth defects of congenital deafness.更多还原