【摘要】：目的分析新生兒聽力與耳聾易感基因聯(lián)合篩查的結果,探討基因篩查的意義和基因型與表型的潛在聯(lián)系。方法對2012年5月至2013年12月在佛山市出生的10 238例新生兒采用AABR進行聽力初篩和復篩,并采集足跟血行耳聾易感基因突變熱點檢測,對聽力篩查結果和耳聾易感基因檢測結果進行統(tǒng)計學對比分析。結果 10 238例新生兒聽力初篩通過率99.16%(10 150/10 238),母嬰同室新生兒(99.43%,9 242/9 295)比NICU新生兒(96.29%,908/943)聽力初篩通過率高,差異有統(tǒng)計學意義(χ2=99.1,P0.001),而兩組新生兒聽力復篩通過率差異無統(tǒng)計學意義(χ2=0.26,P=0.61)。聽力篩查陽性者中確診聽力損失者11例(1.07‰,11/10238),均為雙耳中度到極重度聽力損失。新生兒基因突變陽性率3.08%(315/10 238),高于聽力初篩的未通過率(0.84%)(χ2=123.9,P0.001)。其中,GJB2c.235delC雜合突變165例,純合缺失4例;c.299_300delAT雜合突變20例;c.176_191del16雜合突變6例;未檢測到c.35delG位點突變。SLC26A4c.919-2AG雜合突變82例,純合突變3例;c.2168AG雜合突變12例。MTRNR1 1555AG異質性突變4例,同質性突變18例;1494CT同質性突變1例。GJB2c.235delC和SLC26A4c.919-2AG突變的新生兒中8例在出生25個月內確診為中度到極重度感音神經(jīng)性聾。結論新生兒耳聾易感基因篩查是對傳統(tǒng)新生兒聽力篩查的必要補充,有利于早期發(fā)現(xiàn)耳聾高危人群,預警潛在或遲發(fā)性耳聾的發(fā)生與及早干預。
[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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