中国听力语言康复科学杂志Issue(1)：33-36,4.DOI:10.3969/j.issn.1672-4933.2014.01.010
新疆地区941例新生儿聋病基因GJB2、SLC26A4、线粒体DNA 12S rRNA筛查分析
An Analysis of the Screening Results of GJB2, SLC26A4 and mtDNA 12S rRNA Genes in Uyghur and Han Newborns
余勐 1丁伟 1陆金山 1张伦 1兰兰 2王秋菊 2张劲1
作者信息
- 1. 新疆维吾尔自治区人民医院耳鼻喉一科 乌鲁木齐 830001
- 2. 中国人民解放军总医院耳鼻咽喉头颈外科 北京 100853
- 折叠
摘要
Abstract
Objective To explore the necessity of the application of deafness-related gene tests to newborn screening and to provide reference for the development of strategies on the prevention and treatment of hearing loss. Methods The umbilical cord blood was collected from 941 newborns to receive the restriction fragment length polymorphism (RFLP) and direct sequencing test. The three common deafness-related genes (GJB2, SLC26A4 and mtDNA 12S rRNA) were screened and the results were analyzed with SPSS 13.0 software. Results Of the 941 newborns,19 carried the gene mutations(2.02%),including 9 cases with GJB2 235delC heterozygous mutation, 9 cases with SLC26A4 IVS7-2A>G heterozygous mutation and 3 cases with mtDNA 12S rRNA A1555G mutation. There were 2 cases with compound mutations (1 case with 235delC heterozygous mutation/ IVS7-2A>G heterozygous mutation and 1 case with 1555A>G homoplasmic mutation/235delC heterozygous mutation).The carrier rates of 235delC heterozygous mutation in Uyghur and Han newborns were 0.36%(1/276)and 1.19%(7/586),respectively. The carrier rates of SLC26A4 IVS7-2A>G heterozygous mutation in Uyghur and Han newborns were 0.36%(1/276) and 1.37%(8/586),respectively. The carrier rates of mtDNA 12S rRNA 1555A>G mutation in Uyghur and Han newborns were 0.72% (2/276)and 0%,respectively. There was no significant difference in the carrier rates of the three mutations between Uyghur and Han newborns. Conclusion It is necessary and feasible to apply deafness-related gene tests to newborn screening.关键词
新生儿/基因筛查/线粒体DNA 12S rRNA/GJB2基因/SLC26A4基因Key words
Newborn/Gene screening/mitochondrial DNA 12S rRNA/GJB2 gene/SLC26A4 gene引用本文复制引用
余勐,丁伟,陆金山,张伦,兰兰,王秋菊,张劲..新疆地区941例新生儿聋病基因GJB2、SLC26A4、线粒体DNA 12S rRNA筛查分析[J].中国听力语言康复科学杂志,2014,(1):33-36,4.
