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Abstract：
This study aimed to explore the molecular epidemiology characteristics of deafness susceptibility genes in neonates in northern Guangdong and provide a scientific basis for deafness prevention and control. A total of 10,183 neonates were recruited between January 2018 and December 2022 at Yuebei People\'s Hospital. Among these, a PCR hybridization screening group of 8276 neonates was tested for four deafness genes: GJB2, SLC26A4, mtDNA, and GJB3 by PCR hybridization. Another group used next-generation sequencing (NGS) to detect genetic susceptibility genes in 1907 neonates. In PCR hybridization screening group, 346 (4.18%) of 8276 neonates were found to be carriers of the deafness gene. Among these, 182 (2.2%) had GJB2 variants, 114 (1.38%) had SLC26A4 variants, 35 (0.42%) had mtDNA variants, and 15 (0.18%) had GJB3 variants. In NGS Screening Group, 195 out of 1907 neonates were found to be carriers of the deafness gene, with a positive rate of 10.22%. Among these, 137 (7.18%) had GJB2 variants, 41 (2.15%) had SLC26A4 variants, 11 (0.58%) had mtDNA variants, and 6 (0.31%) had GJB3 variants. The prevalence of deafness gene variants was high in Northern Guangdong Province. The most common gene for deafness was GJB2, followed by SLC26A4 and mtDNA. GJB3 variants are rare. Compared with PCR hybridization method, NGS technology can expand the screening scope and greatly improve the detection rate of deafness genes. The c.109G>A of GJB2 was found to occur at a high frequency, which should be considered. Therefore, it is important to conduct neonatal deafness gene screening to prevent and control hereditary deafness.
摘要：
本研究旨在探讨粤北地区新生儿耳聋易感基因的分子流行病学特征,为耳聋防治提供科学依据。2018年1月至2022年12月，在粤北人民医院共招募了10,183名新生儿。其中,对8276例新生儿的PCR杂交筛选组进行了4种耳聋基因检测:GJB2、SLC26A4、mtDNA、和GJB3通过PCR杂交。另一组使用下一代测序（NGS）来检测1907年新生儿的遗传易感基因。在PCR杂交筛选组中，8276例新生儿中有346例（4.18％）被发现是耳聋基因的携带者。其中,182（2.2％）有GJB2变体，114（1.38%）患有SLC26A4变体，35例（0.42%）有mtDNA变异，15例（0.18%）有GJB3变异。在NGS筛选组中，1907年有195名新生儿被发现是耳聋基因的携带者，阳性率为10.22%。其中,137（7.18％）具有GJB2变体，41（2.15%）患有SLC26A4变体，11例（0.58%）有mtDNA变异，6例（0.31%）有GJB3变异。粤北地区耳聋基因变异的患病率较高。耳聋最常见的基因是GJB2，其次是SLC26A4和mtDNA。GJB3变体很少见。与PCR杂交法比较,NGS技术可以扩大筛查范围,大大提高耳聋基因的检出率。发现GJB2的c.109G>A发生频率很高，这是应该考虑的。因此,进行新生儿耳聋基因筛查对预防和控制遗传性耳聋具有重要意义。
