【摘要】 目的 探讨高通量靶向测序技术（NGS）在新生儿遗传性耳聋筛查中的临床应用价值，并分析鲁西地区耳聋基因遗传特征。方法 采用高通量靶向测序技术对新生儿进行18个基因100个位点的遗传性耳聋基因筛查。结果 在20426例新生儿样本中检出耳聋基因突变的新生儿1445例，耳聋基因突变率为7.074%(1455/20426)。其中GJB2单基因突变615例(3.011%)，包括纯合突变1例，单基因复合杂合突变7例；GJB3单基因突变67例(0.328%)，均为杂合突变；SLC26A4单基因突变570例(2.791%)，包括纯合突变1例，单基因复合杂合突变7例；TMC1单基因突变7例（0.034%）。线粒体突变共162例（0.793%），其中MT-CO1单基因纯合突变84例（0.411%）;MT-RNR1单基因突变54例（0.316%），均质突变42例，异质突变12例；MT-TL1单基因突变21例（0.104%），均质突变1例，异质突变20例；MT-TS1单基因异质突变2例(0.010%);MT-TH单基因均质突变1例(0.005%)。双基因突变24例（0.118%）。后续又进行了5505例新生儿耳聋基因筛查，发现耳聋基因突变率为12.66%，并且关注到了一个新的耳聋基因位点，GJB2基因c.109G>A位点突变率高达4.68%。结论 高通量靶向测序技术显著提高了新生儿耳聋基因筛查效率，为耳聋疾病精准医疗和预防提供了重要依据。更多还原

【Abstract】 Objective To explore the clinical application value of high-throughput targeted sequencing technology(NGS) in the screening of newborns hereditary deafness, and to analyze the genetic characteristics of deafness genes in western Shandong. Methods High-throughput targeted sequencing technology was used to screen the 100 sites of the 18 hereditary deafness genes in newborns. Results In 20426 newborn samples, 1445 newborns with deafness gene mutations were detected, and the deafness gene mutation rate was 7.074%(1455/20426). Among them, there were 615 cases(3.011%) of GJB2 single gene mutation, including 1 case of homozygous mutation and 7 cases of single gene compound heterozygous mutation, and 67 cases(0.328%) of GJB3 single gene mutation, all of which were heterozygous mutations. There were 570 cases(2.791%) of SLC26A4 single gene mutation, including 1 case of homozygous mutation and 7 cases of single gene compound heterozygous mutation. TMC1 single gene mutation was found in 7(0.034%) newborns. There were 162 cases(0.793%) of mitochondrial mutations, including 84 cases(0.411%) of MT-CO1 single gene homozygous mutation; 54 cases(0.316%) of MT-RNR1 single gene mutation, 42 cases of homogeneous mutation, 12 cases of heterogeneous mutation; 21 cases(0.104%) of MT-TL1 single gene mutation, 1 case of homogeneous mutation, 20 cases of heterogeneous mutation; 2 cases(0.010%) of MT-TS1 single gene heterogeneous mutation and 1 case(0.005%) of MT-TH single gene homogeneous mutation. Double gene mutation was found in 24(0.118%) newborns. Subsequently we conducted 5505 cases of newborns deafness gene screening, the mutation rate of deafness gene was 12.66%. And we also focused on a new deafness gene locus, the c.109G>A point mutation rate of GJB2 gene was as high as 4.68%. Conclusion High-throughput targeted sequencing technology significantly improves the efficiency of newborns deafness gene screening, and provides an important basis for precision medicine and prevention of deafness diseases.更多还原