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目的联合基因芯片和焦磷酸测序筛查新生儿遗传性聋基因突变,为早期诊断和预防遗传性聋提供理论依据。方法采集2000例新生儿抗凝脐带血,提取基因组DNA,采用微阵列芯片检测4个聋病基因共9个突变位点,对基因芯片检测的阳性结果进行焦磷酸测序验证。结果检出GJB2基因突变中有1例35delG突变类型,3例176 del16突变类型,57例235del C突变类型,9例299 del AT突变类型;6例GJB3基因538C>T突变类型;线粒体12S rRNA中有5例1555A>G突变类型,1例1494C>T突变类型;SLC26A4中有6例2168A>G突变类型,23例IVS7-2A>G突变类型。2000例新生儿中共103例携带突变基因,基因突变率5.15%。结论本地区非遗传性聋家族史新生儿中GJB2基因突变多见。新生儿中开展遗传性聋基因筛查对早期遗传性聋诊断和预防有非常重要的指导意义,尤其对线粒体12S rRNA基因突变诊断,能够预防用药控制聋病发生,保障该基因突变携带者健康具有十分重要意义。
Objective To screen gene mutations of neonatal hereditary deafness by gene chip and pyrosequencing and to provide theoretical basis for early diagnosis and prevention of hereditary deafness. Methods A total of 2000 newborns with anticoagulant umbilical cord blood were collected and genomic DNA was extracted. Microarrays were used to detect four gene mutations in four deafness loci. Pyrosequencing was performed on the positive results of microarray assay. Results There were 1 type 35delG mutation, 3 type 176del16 mutation type, 57 type 235delC mutation type, 9 type 299 del AT mutation type, 6 type GJB3 538C> T mutation type in mitochondrial 12S rRNA There were 5 cases of 1555A> G mutation type and 1 case of 1494C> T mutation type, 6 cases of 2168A> G mutation type and 23 cases of IVS7-2A> G mutation type in SLC26A4. 103 cases of newborns in 2000 carried the mutation gene, the gene mutation rate of 5.15%. Conclusion GJB2 gene mutation is more common in neonates with non-hereditary deaf family history in this region. Neonatal genetic deaf gene screening for early diagnosis and prevention of hereditary deafness has a very important guiding significance, especially for mitochondrial 12S rRNA gene mutation diagnosis, can prevent medication to control deafness, protect the gene mutation carriers have health Very important.