摘要
目的采用新生儿聋病易感基联合听力筛查对宝鸡地区新生儿听力障碍进行筛查,了解宝鸡地区新生儿聋病流行病学资料,为先天性耳聋患儿及早采取干预措施提供科学数据,提升新生儿优生优育水平。方法我院2017年6月~2018年2月期间对宝鸡地区各区县医院符合纳入条件的568例新生儿足跟血行GJB2、GJB3、SLC26A4、线粒体12Sr RNA耳聋易感基因9个点位和15个点位筛查,同时对入组新生儿采用听力筛查仪进行听力初筛,对于听力初筛未通过者42d后行听力复查。总结所有患儿耳聋易感基因检出情况及特点,总结听力筛查结果,了解宝鸡地区先天性耳聋患儿的临床特点,探讨新生儿聋病易感基因检测在筛查先天性耳聋患儿中的临床价值。结果 2017年6月~2017年12月对454例新生儿行4个耳聋易感基因筛查9个位点位筛查,共筛查出12位新生儿耳聋易感基因突变阳性,阳性率为2.64%。所有患儿出生时听力筛查均通过。这些新生儿父母均听力正常,无家族史。2017年12月~2018年2月对114例新生儿作4个耳聋易感基因15个位点检测,筛查出9例异常,阳性率为7.89%;所有新生儿听力筛查均通过。宝鸡地区新生儿先天性耳聋患儿发生率3.70%。21例耳聋易感基因突变患儿中,GJB2基因突变8例次,SLC26A4基因突变8例次,线粒体12Sr RNA基因突变4例,GJB3基因突变1例次,其中一例患儿同时出现GJB2和SLC26A4两种基因突变。绝大多数基因突变点位为杂合型突变,仅3例为均质型突变,1例为异质突变型。增加突变点位的筛查,可明显提升耳聋易感基因阳性检出率(χ2值=14.353,P<0.005)。结论宝鸡地区新生儿听力筛查先天性耳聋现患率低,但采用耳聋易感基因筛查迟发先天性耳聋患儿阳性率较高,且随着突变点位检测数量的增加,阳性检出率有明显提高,临床应加强新生儿耳聋易感基因筛查,完善检测突变基因点位,提升先天性耳聋患儿�
Objective：To screen newborns with hearing impairment in neonatal deafness susceptibility base combined with hearing screening in Baoji region to understand the epidemiological data of neonatal deafness in Baoji region for early intervention in children with congenital deafness Provide scientific data to enhance the level of eugenics and births of newborns. Methods：From June,2017 to February,2018,568 neonates with heel blood of GJB2,GJB3 and SLC26 A4,9 mitochondrial 12 Sr RNA susceptibility genes and 15 Point screening,at the same time for the group of newborns using hearing screening instrument for hearing screening,for hearing screening did not pass 42 d after the hearing review. To summarize the detection and characteristics of deafness-susceptible genes in all children,summarize the results of hearing screening,understand the clinical features of children with congenital deafness in Baoji region,and explore the susceptibility gene detection of deafness in neonates in screening children with congenital deafness The clinical value. Results：From April 2017 to December 2017,454 newborns were screened for 9 sites of susceptibility genes for deafness,and 12 newborns with positive deafness gene mutations were screened. The positive rates were 2.64%. All children passed hearing screening at birth. The parents of these newborns are normal hearing,no family history. From December 2017 to February 2018,114 newborn infants were tested for 4 sites of susceptibility genes for deafness,and 9 abnormalities were detected. The positive rate was 7.89%. All neonatal hearing screening passed. The incidence of neonates with congenital deafness in Baoji area was 3.70%. In 21 children with deafness susceptibility gene mutation,there were 8 cases of GJB2 gene mutation,8 cases of SLC26 A4 gene mutation,4 cases of mitochondrial 12 Sr RNA gene mutation and 1 case of GJB3 gene mutation. In one case,GJB2 and SLC26 A4 appeared in both cases Gene mutation. Most of the gene mutation sites for heterozygous mutations,only 3 cases were hom
作者
赵雪卉
刘宗印
王莉
唐凯
曹颖
杨雪平
ZHAO Xue-hui;LIU Zong-yin;WANG Li;TANG Kai;CAO Ying;YANG Xue-ping(Department of Obstetrics Baoji Maternal and Child Health Care Hospital Shaanxi Baoji 721000;Department of Genetic Room Baoji Maternal and Child Health Care Hospital Shaanxi Baoji 721000;Department of Child Care Baoji Maternal and Child Health Hospital Shaanxi Baoji 721000)
出处
《中国优生与遗传杂志》
2018年第8期98-100,104,共4页
Chinese Journal of Birth Health & Heredity
关键词
耳聋易感基因
听力筛查
先天性耳聋患儿早期发现
新生儿健康水平
Deafness susceptibility genes
Hearing screening
Early detection of congenital deaf children
Newborn health
