摘要
目的分析新生儿遗传性耳聋基因的突变率，探讨开展新生儿遗传性耳聋基因普遍筛查的必要性及临床意义。方法前瞻性选择2015年5月至2017年5月我院出生的新生儿，生后留取脐带血，采用基因芯片技术进行常见4个耳聋基因筛查，并于出生48 h后进行新生儿听力筛查，42 d复查。采用χ2检验对基因筛查结果及42 d后听力筛查数据进行分析。结果共纳入2 615例新生儿，出生48 h后听力筛查通过2 455例，通过率为93.9%（2 455/2 615）。42 d后复查听力筛查通过143例，通过率为99.3%（2 598/2 615）。脐血耳聋基因突变107例，突变率4.1%。携带耳聋突变基因患儿听力筛查通过96例，通过率为89.7%（96/107）；未携带耳聋突变基因患儿听力筛查通过2 502例，通过率为99.8%（2 502/2 508）；携带耳聋突变基因患儿听力筛查通过率明显低于未携带者，差异有统计学意义（χ2＝160.199，P〈0.001）。107例耳聋基因突变患儿以GJB2基因突变最为常见（49例，45.8%），其次是SLC26A4（37例，34.6%）和mtDNA 12SrRNA（13例，12.1%），GJB3基因突变最少（8例，7.5%）。对17例42 d后听力复筛未通过的新生儿在3月龄时进行听力学诊断，最终确诊新生儿听力下降6例，其中耳聋基因突变导致听力下降5例。结论本组患儿耳聋基因突变以GJB2、SLC26A4突变为主，新生儿听力和基因联合筛查具有临床可行性，能发现暂无听力下降的耳聋基因携带者，有利于对其进行早期干预。
ObjectiveTo study the mutation rate of hereditary deafness genes found in the newborn babies and to explore the feasibility of routine screening of congenital deafness for the newborns.MethodThe cord blood were taken to test four common deafness genes using gene chip technology in newborn infants born in our Hospital from May 2015 to May 2017 and screening of hearing was performed 48 hours after birth. χ2 test was used to analyze the results of gene screening and the hearing screening data obtained after 42 days.ResultA total of 2 615 newborns were enrolled in the study and 2 455 cases passed the hearing screening test 48 hours after birth （the passing rate was 93.9%）. 143 cases passed the hearing screening after 42 days with the passing rate of 99.3%. The mutation of deafness gene from the newborn′s cord blood was detected in 107 cases with the rate of 4.1%. 96 of 107 infants with deafness gene mutations passed the hearing screening （89.7%）. While in infants without this mutation, 2 502 cases passed the hearing screening （99.8%, 2 502/2 508）. The rate of hearing defects in children with deafness gene mutation was significantly higher than those without this gene mutation, and the difference was statistically significant （χ2=160.199, P〈0.001）. Of the 107 cases, the most common mutation was GJB2 （49 cases, 45.8%）, followed by SLC26A4 （37 cases, 34.6%） and mtDNA 12SrRNA （13 cases, 12.1%）, while the GJB3 was the least （8 cases, 7.5%）. 6 cases were diagnosed the neonate hearing loss at 3 months in 17 newborns who failed to pass repeat screening test 42 days after birth. Among them, hearing loss was caused by the mutation in 5 cases.ConclusionThe main mutated genes in children with deafness were GJB2 and SLC26A4 in this study. The combination of hearing screening of newborns and gene test is clinically feasible. The deafness genes in the normal hearing carriers can be detected in time. It is of great advantage for early intervention and treament of the infants early.
作者
戴显宁
童郁
许锴
陈娟娟
陈亥
尚露梦
Dai Xianning , Tong Yu, Xu Kai, Chen Juanjuan, Chen Hai, Shang Lumeng.(Clinical Laboratory, Wenzhou Maternal and Child Health Hospital ＆ Wenzhou People＇s Hospital, Wenzhou 325000, Chin)
基金
温州市公益性社会发展（医疗卫生）科技项目（Y20160194）
关键词
基因测定
新生儿筛查
听力检查
胎血
耳聋基因
Genetic testing
Neonatal screening
Hearing tests
Fetal blood
Deafness genes
