Application of gene detection technique in the antenatal diagnosis of hereditary hearing loss

Y. Fang, M.-S. Gu, F. Suo, C.-X. Wang, X.-H. Liu, F.-M. Liu

The Affiliated Maternal and Child Health Care Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, China. 18952170309@189.cn

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• Otorhinolaryngology

OBJECTIVE: Gene chip and gene sequencing techniques were used to detect the main pathogenic genes in pregnant women with hereditary hearing loss.

PATIENTS AND METHODS: From May 2015 to May 2016, 1080 pregnant in Xuzhou Maternal and Child Health Hospital were enrolled in this study. Women age range was 18 to 40 years. 4 genes and 9 mutation sites, including 4 sites (35delG, 176, 235delC and 299) in GJB2 gene, 2 sites (2168A>G and IVS-7-2A>G) in SLC26A4 (PDS) gene, 2 sites (1494C>T and 1555A>G) in 12s rRNA gene and 1 site (538C>T) in GJB3 gene, were detected using the GeeDom® 9-item hereditary hearing loss gene detection kit. Deafness genes in the husband of the pregnant woman with GJB2 and SLC26A4 positive gene mutations were verified using Sanger sequencing. Fetuses with the same deafness genes as their parents were diagnosed before delivery using amniocentesis.

RESULTS: 48 patients (4.45 %) were detected positive for hereditary hearing loss. Most of them (28 cases) were identified with GJB2 gene mutation (1 case with 176 site mutation, 22 cases with 235delC site mutation and 5 cases with 299 site mutation). We had 15 cases of the SLC26A4 gene mutation (3 cases of 2168A>G site mutation and 12 cases of IVS-7-2A>G site mutation), 2 cases of 538C>T site mutation of GJB3 gene and 3 cases of 1555A>G site mutation of 12s rRNA gene.

CONCLUSIONS: The gene detection technique has a great health-economic significance in screening the main pathogenic genes involved in the hereditary hearing loss.

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