Niu Linyuan, Liu Liqin, Tian Jinjun, Chen Wei, Zhang Chunxiao, Lan Xinqiang
Weihai Second Municipal Hospital Affiliated to Qingdao University, Weihai Maternal and Child Health Hospital, Weihai, China.
Arch Med Sci. 2022 Feb 3;20(1):113-123. doi: 10.5114/aoms/146024. eCollection 2024.
At least 60% of cases of severe hearing loss result from genetic factors. In this study genetic screening was carried out for common genetic deafness in women of childbearing age to prevent deafness and birth defects via providing genetic counseling and follow-up services for high-risk families.
In total 60,391 pre-pregnancy/early-gestation women who received treatment in second-level or above hospitals in Weihai from February 2017 to December 2019 were selected. Venous or peripheral blood was collected to make dried blood slices on filter paper to extract genomic DNA, and high-throughput sequencing was applied to detect 20 variant sites in 4 common deafness genes ( and mitochondrial ) in the Chinese population. The spouses of women with deafness gene variants were sequenced.
In total 3,761 carriers with deafness gene variants were detected in 60,391 women of childbearing age, with a carrier rate of 6.2%. Among them, 1,739 women (2.88%) only carried pathogenic variants. The carrying rate of c.235delC in GJB2 pathogenic variants was the highest at 2.08%. 1,553 women (2.58%) only carried pathogenic variants. The carrying rate of c.919-2A>G in SLC26A4 pathogenic variants was the highest at 1.63%. 300 women (0.5%) only carried variants, and 125 women (0.2%) carried the mitochondrial drug-sensitive gene variant.
This screening model will greatly reduce the birth rate of children with hearing disabilities and is an effective way to prevent newborn deafness. In addition, genetic screening provided the related knowledge of hereditary deafness, especially strengthening genetic counseling and the clinical decision making from the genetic screening.
至少60%的重度听力损失病例是由遗传因素导致的。在本研究中，对育龄期女性进行常见遗传性耳聋的基因筛查，通过为高危家庭提供遗传咨询和随访服务来预防耳聋和出生缺陷。
选取2017年2月至2019年12月在威海市二级及以上医院接受治疗的60391名孕前/孕早期女性。采集静脉血或外周血，在滤纸上制作干血片以提取基因组DNA，并应用高通量测序检测中国人群中4个常见耳聋基因（以及线粒体基因）的20个变异位点。对携带耳聋基因变异的女性配偶进行测序。
在60391名育龄期女性中，共检测到3761名携带耳聋基因变异的携带者，携带率为6.2%。其中，1739名女性（2.88%）仅携带致病变异。GJB2致病变异中c.235delC的携带率最高，为2.08%。1553名女性（2.58%）仅携带致病变异。SLC26A4致病变异中c.919-2A>G的携带率最高，为1.63%。300名女性（0.5%）仅携带变异，125名女性（0.2%）携带线粒体药物敏感基因变异。
这种筛查模式将大大降低听力残疾儿童的出生率，是预防新生儿耳聋的有效途径。此外，基因筛查提供了遗传性耳聋的相关知识，特别是加强了遗传咨询以及基于基因筛查的临床决策。
