中国耳鼻咽喉头颈外科2017，Vol.24Issue(6)：301-304,4.DOI:10.16066/j.1672-7002.2017.06.007
基因芯片联合焦磷酸测序技术应用于新生儿遗传性聋基因突变位点筛查
Application of gene chip joint pyrosequencing technology in the newborn genetic deafness gene mutation screening
李凡玲 1彭炜 1田虎 1周明 1赵艾君 1王为 1印爱军 1杜伟强 1袁群芳 1李志伟1
作者信息
- 1. 仙桃市第一人民医院耳鼻咽喉头颈外科,湖北 仙桃433000
- 折叠
摘要
Abstract
OBJECTIVE To study the gene chip joint pyrosequencing technology in the newborn genetic deafness gene mutation screening, and provide a theoretical basis for the early diagnosis and prevention of genetic deafness. METHODS 2000 Neonatal EDTA umbilical cord blood was collected and genomic DNA (gDNA) was extracted. Microarray chip was used to detect four deafness gene at 9 mutation sites. And the positive result of gene chip detection was verified by pyrosequencing.RESULTS Among the GJB2 mutations, there were 1 case of 35delG mutation type, 3 cases of 176 del16 mutation type, 57 cases of 235del C mutation type, 9 cases of 299 del AT mutation type, 6 cases of GJB3 gene 538C>T mutation type. There were 5 cases of 1555A>G mutations and 1 case of 1494C>T mutations in mitochondrial 12S rRNA. There were 6 cases of 2168A>G mutation type and 23 cases of IVS7-2A>G mutations in SLC26A4. 103 cases of newborns carry the mutated gene in 2,000, the gene mutation rate is 5.15%. CONCLUSION All the four genes mutation at nine mutation sites are found in newborns with family history of non-hereditary deafness, and GJB2 gene mutation is common. The screening of genetic deafness in newborns is very important for early diagnosis and prevention of hereditary hearing loss. In particular, the diagnosis of mitochondrial 12S rRNA gene mutation can prevent the occurrence of deafness caused by drug use, for the genetic mutation of these carriers' health is of great significance.关键词
新生儿筛查/聋/基因/湖北/突变筛查/基因芯片/焦磷酸测序Key words
Neonatal Screening/Deafness/Genes/HUBEI/mutation screening/gene chip/pyrophosphate sequencing引用本文复制引用
李凡玲,彭炜,田虎,周明,赵艾君,王为,印爱军,杜伟强,袁群芳,李志伟..基因芯片联合焦磷酸测序技术应用于新生儿遗传性聋基因突变位点筛查[J].中国耳鼻咽喉头颈外科,2017,24(6):301-304,4.
