GENETICS / RESEARCH PAPER
 
KEYWORDS
TOPICS
ABSTRACT
Introduction:
To analyze the carrying rate of common deafness gene variants in women of childbearing age in Weihai, and to probe into the feasibility of carrying out genetic screening 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.

Material and methods:
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 (GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA) in the Chinese population. The spouses of women with deafness gene variants were sequenced.

Results:
In total 3,761 carriers with deafness gene variants were detected in 6,0391 women of childbearing age, with a carrier rate of 6.2%. Among them, 1,739 cases (2.88%) only carried GJB2 pathogenic variants, 1,553 cases (2.58%) only carried SLC26A4 pathogenic variants, 300 cases (0.5%) only carried GJB3 variants, and 125 cases (0.2%) carried mitochondrial drug-sensitive gene variant.

Conclusions:
This screening model will greatly reduce the birth rate of children with hearing disabilities and is an effective way to prevent newborn with deafness.

eISSN:1896-9151
ISSN:1734-1922