[1]谌玉佳,杨江涛,庄利明,等.深圳市光明区新生儿耳聋基因筛查结果分析[J].医学信息,2020,33(13):134-136,139.[doi:10.3969/j.issn.1006-1959.2020.13.039]
　CHEN Yu-jia,YANG Jiang-tao,ZHUANG Li-ming,et al.Analysis of Genetic Screening Results of Newborn Deafness in Guangming District,Shenzhen[J].Medical Information,2020,33(13):134-136,139.[doi:10.3969/j.issn.1006-1959.2020.13.039]
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深圳市光明区新生儿耳聋基因筛查结果分析()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
33卷
期数:
2020年13期
页码:
134-136,139
栏目:
调查分析
出版日期:
2020-07-01

文章信息/Info

Title:
Analysis of Genetic Screening Results of Newborn Deafness in Guangming District,Shenzhen
文章编号:
1006-1959（2020）13-0134-04
作者:
谌玉佳; 杨江涛; 庄利明; 等
（1.暨南大学第一临床医学院，广东 广州 510632；2.中国科学院大学深圳医院<光明>中医科，广东 深圳 518106；3.深圳爱湾医学检验实验室，广东 深圳 5180004.深圳市罗湖区中医院，广东 深圳 518000）
Author(s):
CHEN Yu-jia; YANG Jiang-tao; ZHUANG Li-ming; et al
(1.The First Clinical School of Jinan University,Guangzhou 510632,Guangdong,China;2.Department of Traditional Chinese Medicine,Shenzhen Hospital,University of Chinese Academy of Sciences,Shenzhen 518106,Guangdong,China;3.Shenzhen Aiwan Medic
关键词:
遗传性耳聋; 新生儿; 基因突变; 基因芯片; 筛查
Keywords:
Hereditary deafness; Neonate; Gene mutation; Gene chip; Screening
分类号:
R764.43
DOI:
10.3969/j.issn.1006-1959.2020.13.039
文献标志码:
A
摘要:
目的 分析深圳市光明区所属3家医院出生的新生儿耳聋基因检测结果，以了解深圳光明区新生儿耳聋基因的突变携带情况。方法 采集深圳市光明区2017年5月~2018年11月出生的新生儿足跟血16249份，用PCR+导流杂交法检测中国人群中常见的4个耳聋易感基因（GJB2、GJB3、SLC26A4、12SrDNA），其中2017年5月~2018年3月收集的标本检测4个常见耳聋基因的9个突变位点，2018年3~11月收集的标本检测4个常见基因的15个突变位点，分析新生儿遗传性耳聋基因突变携带率及突变位点分布情况。结果 16249名新生儿中，检出携带突变耳聋基因575例，总阳性率3.53%，其中检测4基因9位点样本数为8448例，突变样本为262例，突变率为3.10%；检测4基因15位点样本数为7801例，突变样本为313例，突变率为4.01%。所有突变基因中，GJB2基因（1.96%）和SLC26A4基因的突变率最高（1.21%）。结论 深圳市光明区新生儿遗传性耳聋基因突变率低于全国平均水平，基因突变主要以GJB2基因、SLC26A4基因为主，扩大基因位点数量的检测有利于降低漏筛率；早发现、早干预可减少耳聋的发生。
Abstract:
Objective To analyze the detection results of deafness genes in neonates born in 3 hospitals in Guangming district of Shenzhen, so as to understand the mutation carrying status of deafness genes in newborns in Shenzhen Guangming district.Methods Collecting 16249 blood samples of newborns born from May 2017 to November 2018 in Guangming District, Shenzhen, and use PCR + flow-through hybridization to detect 4 common deafness susceptibility genes (GJB2, GJB3, SLC26A4, 12SrDNA), among which the specimens collected from May 2017 to March 2018 detected 9 mutation sites of 4 common deafness genes, and the specimens collected from March to November 2018 detected 15 mutation sites of 4 common genes,the mutation carrying rate and distribution of mutation sites of hereditary deafness genes in newborns were analyzed.Results Among 16249 newborns, 575 cases with mutation deafness genes were detected, with a total positive rate of 3.53%, of which 8448 samples were detected for 9 sites of 4 genes, 262 samples were mutated, and the mutation rate was 3.10%; 4 genes were detected 15 the number of loci samples was 7801, the mutation samples were 313, and the mutation rate was 4.01%. Among all the mutated genes, GJB2 gene (1.96%) and SLC26A4 gene had the highest mutation rate (1.21%).Conclusion The mutation rate of hereditary deafness genes in the Guangming District of Shenzhen City is lower than the national average. The genetic mutations are mainly GJB2 gene and SLC26A4 gene. Enlarging the detection of gene loci is helpful to reduce the screening rate; early detection and early intervention can reduce the occurrence of deafness.

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更新日期/Last Update: 1900-01-01