摘要
目的通过耳聋相关基因突变率测试新生儿先天性听力损失(HL)的发生率。方法针对沈阳地区连续性新生儿的临床研究,使用PCR反应研究测试了538例出生后3天新生儿,包括四个基因的七个位点:GJB2(176 del 16,235del C,299 del AT),SLC26A4(IVS7-2 A>G,2168 A>G),MTRNR1(1555 A4G)和GJB3(538 C>T),同时记录婴儿出生一般状况。结果 538名新生儿,30例携带致病突变(5.576%)。GJB2(176del 16,235 del C,299 del AT),GJB3(538C>T),SLC26A4(IVS7-2A>G,2168 A>G)和MTRNR1(1555 A>G)突变率分别为0.186%,2.416%,0.558%,0.186%,1.673%,0.186%和0.372%。Logistic回归分析显示基因突变与婴儿性别,早产,双胎状态或出生体重无统计学意义。结论 GJB2(235 del C)突变是中国人群中最常见的耳聋相关突变,耳聋基因的遗传筛选将有助于提高新生儿先天性听力损失的筛出率。
Objective：To determine the incidence of congenital hearing loss（HL）in newborns by the rate of deafnessrelated genetic mutations. Methods：Design Clinical study of consecutive newborns in Shenyang using allele-specific polymerase chain reaction-based universal array. This study tested 16538 newborns within 3 days after birth,including seven sites in four genes：GJB2（176 del 16,235 del C,299 del AT）,SLC26 A4（IVS7-2 A〉G,2168 A〉G）,MTRNR1（1555 A〉G）and GJB3（538 C〉T）. The birth condition of infants was also recorded. Results：Of 538 newborns,30 carried pathogenic mutations,or 5.576%. The carrier rates of GJB2（176 del 16,235 del C,299 del A〉T）,GJB3（538 C〉T）,SLC26 A4（IVS7-2 A〉4 G,2168 A〉G）,and MTRNR1（1555 AG）mutations were 0.186%,2.416%,0.558%,0.186%,1.673%,0.186% and 0.372%,respectively. Logistic regression analysis indicated no statistically significant relationship between mutations and infant sex,premature delivery,twin status,or birth weight. Conclusion：The GJB2 235 del C mutation was the most frequent deafness-related mutation in the Chinese population. Genetic screening for the deafness gene will help detect more cases of newborn congenital HL than current screening practices.
作者
朱宝玉
王战东
訾龙
杨昕
曹鋐
ZHUBao-yu;WANG Zhan- dong;ZI Long;YANG Ting;CAO Hong.(Department of Otolaryngology, No. 463 Hospital of Chinese PLA, Shenyang, Liaoning, Chin)
出处
《中国优生与遗传杂志》
2018年第5期77-79,共3页
Chinese Journal of Birth Health & Heredity
关键词
听力损失
基因
质谱筛查
Heating loss
Genes
Mass screening
