Jiangsu Family Planning Research Institute, Nanjing, P. R. China.
Children's Hospital of Philadelphia, Philadelphia, PA, USA.
J Evid Based Med. 2019 Feb;12(1):40-50. doi: 10.1111/jebm.12305. Epub 2018 Jul 2.
The objective of this study was to review the carrier frequencies of hearing loss gene variants, such as GJB2, SLC26A4, and MT-RNR1 in newborns of China.
PubMed, Embase, BioCentral, CNKI, WanFang, and VIP databases were used for searching relevant literature studies published during the period of January 2007 and January 2016. Meta-analysis was performed by using the R software. The estimated rate and its 95% confidence intervals (CI) of the relevant indexes in newborns were collected and calculated using a fixed-effects model or a random-effects model when appropriate.
In total, 35 of 958 published literature studies in Chinese and English were selected. The overall results showed that in newborns of China, the carrier frequencies of GJB2 variants (235 delC, 299 delAT) were 1.64% (95% CI 1.52% to 1.77%) and 0.33% (95% CI 0.19% to 0.51%); SLC26A4 variants (IVS7-2 A > G, 2168 A > G) were 1.02% (95% CI 0.91% to 1.15%) and 0.14% (95% CI 0.06% to 0.25%); MT-RNR1 variants (1555 A > G, 1449 C > T) were 0.20% (95% CI 0.17% to 0.23%) and 0.03% (95% CI 0.02% to 0.05%).
There are high carrier frequencies of GJB2 variants among newborns in China, followed by SLC26A4 and MT-RNR1 variants. In order to achieve "early detection, early diagnosis and early treatment" and reduce the incidence of hereditary hearing loss in offspring, a comprehensive combination of neonatal hearing screening and deafness gene detection should be recommended and implemented in China.
本研究旨在回顾中国新生儿听力损失基因变异（如 GJB2、SLC26A4 和 MT-RNR1）的携带频率。
检索 2007 年 1 月至 2016 年 1 月期间发表的相关文献研究，使用 PubMed、Embase、BioCentral、CNKI、WanFang 和 VIP 数据库。使用 R 软件进行荟萃分析。采用固定效应模型或随机效应模型收集和计算相关指标在中国新生儿中的估计率及其 95%置信区间（CI）。
共纳入 35 项中英文文献研究。总体结果显示，在中国新生儿中，GJB2 变异（235delC，299delAT）的携带频率为 1.64%（95%CI 1.52%至 1.77%）和 0.33%（95%CI 0.19%至 0.51%）；SLC26A4 变异（IVS7-2A>G，2168A>G）为 1.02%（95%CI 0.91%至 1.15%）和 0.14%（95%CI 0.06%至 0.25%）；MT-RNR1 变异（1555A>G，1449C>T）为 0.20%（95%CI 0.17%至 0.23%）和 0.03%（95%CI 0.02%至 0.05%）。
中国新生儿 GJB2 变异携带率较高，其次是 SLC26A4 和 MT-RNR1 变异。为了实现“早发现、早诊断、早治疗”，降低遗传性听力损失后代的发生率，建议在中国综合应用新生儿听力筛查和耳聋基因检测。
