| 摘要: |
| 目的 了解湖州地区新生儿耳聋基因的携带率及突变类型。方法应用飞行时间质谱技术，对1814例新生儿进行GJB2、SLC26A4、GJB3、线粒体12SrRNA4个常见耳聋基因20个热点突变位点的检测。结果1814例新生儿中检测出GJB2基因突变54例（2.98%），SLC26A4基因突变24例（1.32%），GJB3基因突变12例（0.66%），线粒体12SrRNA基因突变2例（0.11%）。结论在湖州地区无耳聋家族史的新生儿中，GJB2和SLC26A4基因突变率较高，GJB3基因和线粒体12SrRNA基因突变较为少见。 |
| 关键词: 新生儿 耳聋基因 突变 |
| DOI： |
| 分类号: |
| 基金项目:湖州市科学技术局公益性技术应用研究项目 |
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| Screening for neonatal deafness-related gene mutation sites |
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XIN Rong,GU Chunjian,LOU Zhiwu,SHEN Xueping
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Huzhou Maternity and Child Care Hosptial
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| Abstract: |
| Objective To screen neonatal deafness-related gene mutation sites. Methods Twenty mutation sites of 4 deafness susceptibility genes (GJB2, SLC26A4, GJB3 and mitochondria 12SrRNA) were examined with time-of-flight mass spectrometer in 1814 newborns from Huzhou area of Zhejiang Province. Results Among 1814 newborns，GJB2, SLC26A4, GJB3 and 12SrRNA mitochondrial gene mutations were detected in 54 (2.98%), 24 (1.32%), 12 (0.66%) and 2 (0.11%) newborns, respectively. Conclusion GJB2 and SLC26A4 gene mutation rates are in newborns without family history of hearing loss in Huzhou area. |
| Key words: Newborns Deafness gene Mutation |
