基于Goldengate高通量耳聋基因芯片分析听力筛查未通过新生儿的耳聋基因突变类型  

Analysis of deafness gene mutation types of newborns failing hearing screening based on Goldengate high-throughput deafness gene chip

作　　者：郭萌[1] 骆莹莹 闫娇娇 郝建文 卞新华[1] GUO Meng;LUO Ying-ying;YAN Jiao-jiao;HAO Jian-wen;BIAN Xin-hua(Department of Otorhinolaryngology,The Second Affiliated Hospital of Xingtai Medical College,Xingtai 054000,Hebei,China;Department of Function Laboratory,Hebei General Hospital for Veterans,Xingtai 054000,Hebei,China)

机构地区：[1]邢台医学高等专科学校第二附属医院五官科,河北邢台054000 [2]河北省退役军人总医院康复科,河北邢台054000

出　　处：《生物医学工程与临床》2024年第4期563-567,共5页Biomedical Engineering and Clinical Medicine

摘　　要：目的利用Goldengate高通量耳聋基因芯片技术,对听力筛查未通过新生儿的耳聋基因突变类型进行研究。方法选择2020年2月至2022年2月邢台医学高等专科学校第二附属医院284例听力筛查未通过新生儿,其中男性154例,女性130例;年龄3~10 d,平均年龄6.46 d(标准差1.57 d);体质量2.5~4.1 kg,平均体质量3.26 kg(标准差0.34 kg);家族史10例,用药史15例。采用Goldengate高通量耳聋基因芯片筛查耳聋基因。分析耳聋基因突变位点和类型,研究基因突变患儿与听力损失程度的关系。结果284例听力筛查未通过新生儿中耳聋基因突变32例(11.27%),其中SLC26A4突变18例(6.34%),GJB2突变9例(3.17%),GJB3突变3例(1.06%),TMC1突变1例(0.35%),MYO6突变1例(0.35%)。SLC26A4基因突变频率最高的2个位点分别为IVS7-2A>G(5例)、697G>C(4例),GJB2基因突变频率最高的2个位点分别为299_300delAT(4例)、235deIC(3例),GJB3、TMC1各突变位点仅有1例。18例SLC26A4突变新生儿的Goldengate高通量芯片与Sanger测序法检测结果基本一致。SLC26A4突变新生儿听力损失程度以轻中度为主,而GJB2突变新生儿听力损失程度以中重度为主,SLC26A4、GJB2突变新生儿的听力损失程度分布差异有统计学意义(χ^(2)=7.481,P=0.024)。结论Goldengate高通量耳聋基因芯片分析可准确检测听力筛查未通过新生儿的耳聋基因突变类型,其中聋病易感型基因主要为SLC26A4、GJB2。Hospital for Veterans;Objective To analyze the types of deafness gene mutations in neonates who failed hearing screening based on Goldengate high-throughput gene chip. Methods From February 2020 to February 2022, a total of 284 newborns who failed hearing screening were enrolled, which included 154 males and 130 females, aged 3-10 days with mean age of 6.46days(standard deviation 1.57 days);body mass was 2.5-4.1 kg with mean body mass of 3.26 kg(standard deviation 0.34 kg).There were 10 cases of family history and 15 of medication history. The Goldengate high-throughput deafness gene chip was used to screen deafness genes. The mutation sites and types of deafness gene were analyzed to study relationship between children with gene mutation and hearing loss degree. Results There were 32 cases(11.27 %) of deafness gene mutations in284 newborns who failed hearing screening, which included 18 cases(6.34 %) of SLC26A4 mutation, 9(3.17 %) of GJB2 mutation, 3(1.06 %) of GJB3 mutation, 1(0.35 %) of TMC1 mutation and 1(0.35 %) of MYO6 mutation. The two sites with the highest mutation frequency of SLC26 A4 were IVS7-2A > G(5 cases) and 697G > C(4 cases), respectively. The two sites with the highest mutation frequency of GJB2 were 299_300 delAT(4 cases) and 235 deIC(3 cases), respectively. There was only one mutation site of GJB3 and TMC1. The results of Goldengate high-throughput chip of 18 newborns with SLC26A4 mutation were basically consistent with those of Sanger sequencing. The hearing loss degree of SLC26A4 mutation newborns was mainly mild to moderate, while hearing loss degree of GJB2 mutation newborns was mainly moderate to severe. The distribution difference of hearing loss degree of SLC26A4 and GJB2 mutation newborns was statistically significant(χ^(2)= 7.481, P = 0.024). Conclusion It is demonstrated that Goldengate high-throughput deafness gene chip analysis can accurately detect the types of deafness gene mutations in newborns who failed hearing screening, and the susceptible genes of deafness are mainly SLC2

关 键 词：耳聋 基因芯片 基因突变 听力损失 听力筛查 

分 类 号：R764.43[医药卫生—耳鼻咽喉科] R440[医药卫生—临床医学]