大连地区1536例新生儿耳聋基因检测及6例家系结果分析  

Gene test of 1536 newborns and pedigree results of 6 cases in Dalian

作　　者：石铭 杨惠云 张晨 刘小雪 张静[3] 朱文秀 Shi Ming;Yang Huiyun;Zhang Chen;Liu Xiaoxue;Zhang Jing;Zhu Wenxiu(Dalian Women and Children Medical Group Laboratory Medical Department,Dalian 116037,China;School of Laboratory Medicine,Dalian Medical University,Dalian 116044,China;Department of Laboratory,Dalian Municipal Center Hospital,Dalian 116033,China)

机构地区：[1]大连市妇女儿童医疗中心(集团)检验医学部,大连116037 [2]大连医科大学检验医学院,大连116044 [3]大连市中心医院检验科,大连116033

出　　处：《中国医师进修杂志》2024年第7期600-605,共6页Chinese Journal of Postgraduates of Medicine

基　　金：大连市妇女儿童医疗中心(集团)博士启动基金项目(第一批)([2022]156)。

摘　　要：目的了解大连地区新生儿遗传性耳聋基因携带率,并对6例耳聋基因检测阳性新生儿进行家系分析,为预防遗传性耳聋提供参考依据。方法回顾性纳入2022年1-10月在大连市妇女儿童医疗中心(集团)出生的新生儿1536例,进行遗传性耳聋4基因[GJB2、GJB3、SLC26A4(PDS)、MT-RNRI(12SrRNA)]检测,对其中6例检测阳性新生儿进行遗传性耳聋NGS Panel基因检测。结果1536例新生儿共筛查出85例耳聋基因突变,总携带率5.53%(85/1536)。GJB2基因突变32例,携带率2.08%(32/1536);GJB3基因突变4例,携带率0.26%(4/1536);SLC26A4(PDS)基因突变32例,携带率2.08%(32/1536);MT-RNRI(12SrRNA)基因突变14例,携带率0.91%(14/1536);GJB2/GJB3复合杂合突变2例,携带率0.13%(2/1536);GJB2/SLC26A4(PDS)复合杂合突变1例,携带率0.07%(1/1536)。遗传性耳聋NGS Panel基因检测中检出1例三基因复合杂合突变,1例KCNQ4基因杂合突变。结论纯合突变与复合杂合突变是常染色体隐性遗传基因致聋的主要因素,遗传性耳聋NGS Panel基因检测对基因溯源以及罕见致聋基因的检出有重要意义。ObjectiveTo understand the gene carrying rate of neonatal genetic deafness in Dalian area,and to analyze the pedigree of 6 newborns with positive deafness gene test,to provide a reference basis for preventing genetic deafness.MethodsA total of 1536 newborns born in Dalian Women′s and Children′s Medical Center(Group)from January to October in 2022 were retrospectively enrolled to detect the 4 genes of hereditary deafness,including GJB2,GJB3,SLC26A4(PDS)and MT-RNRI(12SrRNA).Among them,6 newborns with hereditary deafness were tested for NGS Panel gene.ResultsA total of 85 deafness gene mutations were detected in 1536 newborns,with the total carrying rate of 5.53%(85/1536).Thirty-two cases of GJB2 mutations with carrying rate of 2.08%(32/1536);4 cases of GJB3 mutation of 0.26%(4/1536);32 cases of SLC26A4(PDS)gene mutations of 2.08%(32/1536);14 cases of MT-RNRI(12SrRNA)mutations with carrying rate of 0.91%(14/1536);2 cases had compound heterozygous mutations of GJB2/GJB3,with a carrier rate of 0.13%(2/1536);1 cases had compound heterozygous mutations of GJB2/SLC26A4(PDS),with a carrier rate of 0.07%(1/1536);1 case of compound heterozygous mutation in three-gene and a heterozygous mutation in KCNQ4 were detected in NGS Panel testing for hereditary deafness.ConclusionsHomozygous mutation and compound heterozygous mutation are the main factors of autosomal recessive gene deafness,and the NGS Panel gene detection is of great significance for gene traceability and the detection of rare deafness gene.

关 键 词：耳聋 基因 基因突变携带率 纯合突变 复合杂合突变 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R722.1[医药卫生—临床医学]