广西新生儿遗传性非综合征型耳聋基因筛查

发布时间：2018-10-16 19:57

【摘要】：目的应用基质辅助激光解吸电离飞行时间质谱(MALDI-TOF-MS)技术检测广西新生儿遗传性非综合征型耳聋(NSHI)基因突变基因,探讨耳聋基因筛查在临床中应用的有效性和可行性。方法对7 100例出生的新生儿采用自动判别听性脑干诱发电位(AABR)进行听力初筛和复筛,并通过足跟血斑提取基因组DNA,采用MALDI-TOF-MS进行4个耳聋易感基因20个突变位点检测。结果7 100例新生儿听力初筛通过率为97.11%(6 895/7 100),新生儿基因突变阳性率为3.54%(251/7 100),其中GJB2基因突变131例,携带率为1.84%,235delC杂合突变108例。SLC26A4基因突变93例,以1229CT杂合突变和IVS7-2AG杂合突变为主,mtDNA12SRNA基因突变16例,GJB3基因突变11例。结论采用MALDI-TOF-MS技术筛查可提高常见耳聋相关基因热点突变检出率,从分子水平发现新生儿遗传性NSHI,可为早期发现、预测耳聋的发生及制订干预措施提供相应的遗传咨询指导。
[Abstract]:Objective to detect the mutation gene of (NSHI) gene in neonates with hereditary nonsyndromic deafness by matrix assisted laser desorption ionization time of flight mass spectrometry (MALDI-TOF-MS) and to explore the effectiveness and feasibility of gene screening for deafness in clinic. Methods Auto-discriminant auditory brainstem evoked potential (AABR) was used to screen and screen hearing in 7 100 newborns, and genomic DNA, was extracted from heel blood spot to detect 20 mutation sites of 4 hearing loss susceptibility genes using MALDI-TOF-MS. Results the rate of primary screening was 97.11% (689.5 / 7,100) and the positive rate of gene mutation was 3.54% (251 / 7,100) in 7 100 newborns. The mutation rate of GJB2 gene was 131 cases, the carrying rate was 1.845delC heterozygote mutation in 108 cases, and the SLC26A4 gene mutation was 93 cases. 1229CT heterozygosity and IVS7-2AG heterozygosity were the main mutations, mtDNA12SRNA gene mutation in 16 cases, GJB3 gene mutation in 11 cases. Conclusion MALDI-TOF-MS screening can improve the detection rate of hot spot mutations in common deafness related genes. The discovery of genetic NSHI, in newborns at molecular level can provide genetic counseling guidance for early detection, prediction of deafness and formulation of intervention measures.
【作者单位】：广西壮族自治区妇幼保健院遗传代谢中心实验室;
【分类号】：R764.43

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