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目的调查了解乌鲁木齐市新生儿耳聋基因的突变类型。方法采集2015年9-10月-2016年8-9月在乌鲁木齐市出生的3122例新生儿足跟血,使用博奥生物公司遗传性耳聋基因芯片检测试剂盒,对中国最常见的4个耳聋基因(GJB2、SLC26A4、12Sr RNA及GJB3)的9个致聋突变位点进行检测。结果 3122例新生儿中,检出111例新生儿携带耳聋基因突变,总突变率为3.56%。其中:男性53例,占47.74%,女性58例,52.25%,男女之间差异无统计学意义(P>0.05),汉族96例,占86.48%,维吾尔族7例,占6.3%,回族8例,占7.2%,其他民族未检出。四个耳聋基因(GJB2、SLC26A4、12Sr RNA及GJB3)突变率分别为1.72%、1.37%、0.19%、0.25%。结论乌鲁木齐市新生儿中,耳聋基因以GJB2基因突变率最高,临床表现为先天性感音神经性耳聋,婴儿出生时就表现为中重度以上耳聋,提示应及早在新生儿中开展耳聋基因筛查,达到早发现、早诊断、早治疗的目的。
Objective To investigate the mutation types of neonatal deafness gene in Urumqi. Methods A total of 3122 neonates with heel blood born from September 2015 to September 2016 in Urumqi were enrolled in this study. Using Boeo’s hereditary deafness gene chip detection kit, the most common deafness Genes (GJB2, SLC26A4, 12Sr RNA and GJB3) were detected in nine deafness mutation sites. Results Among 3122 newborns, 111 newborns with deafness gene mutations were detected, with a total mutation rate of 3.56%. There were 53 males (47.74%), 58 females (52.25%) with no significant difference between males and females (96%), 86.48% of Han males, 7 of Uighurs (6.3%), 8 Cases, accounting for 7.2%, other ethnic groups were not detected. The mutation rates of four deafness genes (GJB2, SLC26A4, 12Sr RNA and GJB3) were 1.72%, 1.37%, 0.19% and 0.25% respectively. Conclusions The gene mutation rate of GJB2 in neonates with deafness is the highest in Urumqi. The clinical manifestations are congenital sensorineural hearing loss. The infants born at birth are moderate to severe deafness, which suggests that deafness gene screening should be carried out as soon as possible in neonates. To early detection, early diagnosis, early treatment purposes.