佛山市10238例新生儿听力与耳聋易感基因联合筛查分析

发布时间：2018-12-13 23:22

【摘要】：目的分析新生儿听力与耳聋易感基因联合筛查的结果,探讨基因筛查的意义和基因型与表型的潜在联系。方法对2012年5月至2013年12月在佛山市出生的10 238例新生儿采用AABR进行听力初筛和复筛,并采集足跟血行耳聋易感基因突变热点检测,对听力筛查结果和耳聋易感基因检测结果进行统计学对比分析。结果 10 238例新生儿听力初筛通过率99.16%(10 150/10 238),母婴同室新生儿(99.43%,9 242/9 295)比NICU新生儿(96.29%,908/943)听力初筛通过率高,差异有统计学意义(χ2=99.1,P0.001),而两组新生儿听力复筛通过率差异无统计学意义(χ2=0.26,P=0.61)。听力筛查阳性者中确诊听力损失者11例(1.07‰,11/10238),均为双耳中度到极重度听力损失。新生儿基因突变阳性率3.08%(315/10 238),高于听力初筛的未通过率(0.84%)(χ2=123.9,P0.001)。其中,GJB2c.235delC杂合突变165例,纯合缺失4例;c.299_300delAT杂合突变20例;c.176_191del16杂合突变6例;未检测到c.35delG位点突变。SLC26A4c.919-2AG杂合突变82例,纯合突变3例;c.2168AG杂合突变12例。MTRNR1 1555AG异质性突变4例,同质性突变18例;1494CT同质性突变1例。GJB2c.235delC和SLC26A4c.919-2AG突变的新生儿中8例在出生25个月内确诊为中度到极重度感音神经性聋。结论新生儿耳聋易感基因筛查是对传统新生儿听力筛查的必要补充,有利于早期发现耳聋高危人群,预警潜在或迟发性耳聋的发生与及早干预。
[Abstract]:Objective to analyze the results of combined screening of hearing and deafness susceptibility genes in newborns, and to explore the significance of gene screening and the potential relationship between genotype and phenotype. Methods 10 238 newborns born in Foshan City from May 2012 to December 2013 were selected for hearing screening and rescreening with AABR, and the hot spots of mutation in heel blood were collected for deafness susceptibility gene mutation. The results of hearing screening and deafness susceptibility genes were compared and analyzed statistically. Results the rate of primary screening of hearing was 99.16% (10 150 / 10 238) in 10 238 newborns. The rate of primary screening of hearing was higher in neonates with mother and infant (99. 43) than in neonates with NICU (96. 29 / 908 / 943). The difference was statistically significant (蠂 ~ 2 / 99.1 / P _ 0.001), but there was no significant difference between the two groups (蠂 ~ 2 / 0.26 / P ~ (0.61). 11 cases of hearing loss (1.07 鈥，

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