半导体测序分析山东省1000例听障患者致聋基因

左磊; 孙毅; 刘晓莉; 张娣; 张凯齐; 王锋

doi:10.3969/j.issn.1672-4933.2023.06.013

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半导体测序分析山东省1000例听障患者致聋基因

临床研究 | 更新时间：2023-12-06

- 半导体测序分析山东省1000例听障患者致聋基因
- Analysis of Semiconductor Sequencing of 1000 Hearing-Impaired Patients in Shandong Province
- 中国听力语言康复科学杂志 2023年21卷第6期页码：607-612
- 作者机构：
  
  山东省康复研究中心（山东省康复医院）检验科济南 250109
- 作者简介：
  
  左磊硕士主管技师；研究方向：耳聋基因筛查、诊断及预防
  王锋，E-mail：wf11282001@163.com
- 基金信息：
- DOI：10.3969/j.issn.1672-4933.2023.06.013
  中图分类号：
- 纸质出版日期：2023-11-15，
  
  收稿日期：2023-06-09，
- 稿件说明：
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左磊,孙毅,刘晓莉等.半导体测序分析山东省1000例听障患者致聋基因[J].中国听力语言康复科学杂志,2023,21(06):607-612.

ZUO Lei,SUN Yi,LIU Xiao-li,et al.Analysis of Semiconductor Sequencing of 1000 Hearing-Impaired Patients in Shandong Province[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2023,21(06):607-612.
左磊,孙毅,刘晓莉等.半导体测序分析山东省1000例听障患者致聋基因[J].中国听力语言康复科学杂志,2023,21(06):607-612. DOI： 10.3969/j.issn.1672-4933.2023.06.013.

ZUO Lei,SUN Yi,LIU Xiao-li,et al.Analysis of Semiconductor Sequencing of 1000 Hearing-Impaired Patients in Shandong Province[J].Chinese Scientific Journal of Hearing and Speech Rehabilitation,2023,21(06):607-612. DOI： 10.3969/j.issn.1672-4933.2023.06.013.

摘要

目的

应用新的半导体测序技术对山东地区耳聋患者进行耳聋基因检测，以明确耳聋的遗传学病因。

方法

汇总2020年1月～12月山东省1000例耳聋患者血样标本，应用半导体基因测序技术对18个耳聋基因100个突变位点进行检测，统计分析耳聋基因变异类型和变异位点发生情况。

结果

1000例耳聋患者中，有583例携带耳聋基因突变，检出率为58.3%；其中

GJB2

基因突变267例（26.7%）；

SLA26A4

基因突变215例（21.5%）；

GJB3

基因突变11例（1.1%）；

mtDNA

基因突变21例（2.1％）；双基因杂合突变和三基因突变共69例（6.9%）；而

MT-TH、DSPP、GPR98、DFNA5、COCH、TECTA、DIABLO、TMC1、MYO7A、MYO15A、PRPS1

11个基因均未检测到突变。

结论

山东省耳聋人群中常见的致聋基为

GJB2

和

SLA26A4

。虽然半导体测序技术可明显提高耳聋基因的检出率和诊断率，但仍无法满足所有听障患者检测需求；必要时对筛查阴性患者进行高通量测序检测，以明确诊断。

Abstract

Objective

To use the new semiconductor sequencing technology to detect the deafness Genetic testing of deaf patients in Shandong to determine the genetic cause of deafness.

Methods

1000 blood samples from deaf patients in various regions of Shandong from January to December 2020 were collected. We applied semiconductor gene sequencing technology to detect 100 mutation sites of 18 deafness genes

and statistical analysis was conducted on the types and occurrence of deafness gene mutations.

Results

1000 deaf patients have 583 carried mutations in the deafness gene

with a detection rate of 58.3%. Among them

GJB2

gene mutations have 267 cases (26.7%);

SLA26A4

gene mutations have 215 cases (21.5%);

GJB3

gene mutations have 11 cases (1.1%);

mtDNA

gene mutations have 21 cases (2.1%); dual gene heterozygous mutations and triple gene mutations have a total of 69 cases (6.9%). The 11 mutations genes of

MT-TH

DSPP

GPR98

DFNA5

COCH

TECTA

DIABLO

TMC1

MYO7A

MYO15A

and

PRPS1

were not detected.

Conclusion

GJB2

and

SLA26A4

were the most common deafness genes mutated in the deaf people in Shandong Province. Although semiconductor sequencing technology

could significantly improve the detection and diagnostic rates of deafness genes

it still could not meet the testing needs of all hearing-impaired patients. If necessary

high-throughput sequencing testing was required for screening negative patients to clarify the diagnosis.

关键词

半导体测序技术耳聋基因预防

Keywords

Semiconductor sequencingDeafness GenesPrevention

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