Gene test of 1 536 newborns and pedigree results of 6 cases in Dalian
10.3760/cma.j.cn115455-20230731-00054
- VernacularTitle:大连地区1 536例新生儿耳聋基因检测及6例家系结果分析
- Author:
Ming SHI
1
;
Huiyun YANG
;
Chen ZHANG
;
Xiaoxue LIU
;
Jing ZHANG
;
Wenxiu ZHU
Author Information
1. 大连市妇女儿童医疗中心（集团）检验医学部，大连 116037
- Keywords:
Deafness;
Gene;
Gene mutation carrying rate;
Homozygous mutation;
Compound heterozygous mutation
- From:
Chinese Journal of Postgraduates of Medicine
2024;47(7):600-605
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To understand the gene carrying rate of neonatal genetic deafness in Dalian area, and to analyze the pedigree of 6 newborns with positive deafness gene test, to provide a reference basis for preventing genetic deafness.Methods:A total of 1 536 newborns born in Dalian Women′s and Children′s Medical Center (Group) from January to October in 2022 were retrospectively enrolled to detect the 4 genes of hereditary deafness, including GJB2, GJB3, SLC26A4 (PDS) and MT-RNRI (12SrRNA). Among them, 6 newborns with hereditary deafness were tested for NGS Panel gene.Results:A total of 85 deafness gene mutations were detected in 1 536 newborns, with the total carrying rate of 5.53% (85/1 536). Thirty-two cases of GJB2 mutations with carrying rate of 2.08% (32/1 536); 4 cases of GJB3 mutation of 0.26% (4/1 536); 32 cases of SLC26A4 (PDS) gene mutations of 2.08% (32/1 536); 14 cases of MT-RNRI (12SrRNA) mutations with carrying rate of 0.91% (14/1 536); 2 cases had compound heterozygous mutations of GJB2/GJB3, with a carrier rate of 0.13% (2/1 536); 1 cases had compound heterozygous mutations of GJB2/SLC26A4 (PDS), with a carrier rate of 0.07% (1/1 536); 1 case of compound heterozygous mutation in three-gene and a heterozygous mutation in KCNQ4 were detected in NGS Panel testing for hereditary deafness.Conclusions:Homozygous mutation and compound heterozygous mutation are the main factors of autosomal recessive gene deafness, and the NGS Panel gene detection is of great significance for gene traceability and the detection of rare deafness gene.
