Xu Chenyang, Xiang Yanbao, Lin Xiaoling, Ma Qifan, Xu Yunzhi, Li Huanzheng, Tang Shaohua, Xu Xueqin
Key Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.
Mol Genet Genomic Med. 2025 Feb;13(2):e70064. doi: 10.1002/mgg3.70064.
Although spinal muscular atrophy (SMA), hereditary hearing loss (HL), and thalassemia are common monogenic genetic diseases, the carrier frequencies and variant spectrums of these diseases show regional differences, even within China. Their carrier frequencies and variant spectrums in Southern Zhejiang, China are unclear.
Saliva was collected for carrier screening and amniotic fluid, villi, and peripheral blood were collected for prenatal diagnosis. Real-time quantitative polymerase chain reaction (PCR) and multiplex ligation-dependent probe amplification (MLPA) were used to detect the copy number of SMN1 exon 7. PCR coupled with flow-through hybridization, MLPA, and Sanger sequencing were used to detect common genes for HL and thalassemia.
Common variants were detected in 15.14% (2109/13926) of the 13,926 women of reproductive age from South Zhejiang who participated in this study. The carrier frequencies of SMA, HL, and thalassemia were 2.11% (294/13926), 4.87% (678/13926), and 8.82% (1228/13926), respectively. In total, 56.47% (1117/1978) of husbands were successfully recalled. The total number of at-risk couples was 111 (111/13926, 0.80%). Further, 47 families underwent prenatal diagnosis. A total of 13 (13/13926; 0.93‰) affected pregnancies were identified.
Our findings confirm that SMA, HL, and thalassemia are highly prevalent in Southern Zhejiang, with some regional specificity, as compared with recent large population-based surveys in China. Further, a rapid saliva sample-based non-invasive screening method was established, and its feasibility was demonstrated.
尽管脊髓性肌萎缩症（SMA）、遗传性听力损失（HL）和地中海贫血是常见的单基因遗传病，但这些疾病的携带频率和变异谱存在地区差异，甚至在中国国内也是如此。它们在中国浙江南部的携带频率和变异谱尚不清楚。
收集唾液进行携带者筛查，收集羊水、绒毛和外周血进行产前诊断。采用实时定量聚合酶链反应（PCR）和多重连接依赖探针扩增（MLPA）检测SMN1基因第7外显子的拷贝数。采用PCR结合导流杂交、MLPA和桑格测序检测HL和地中海贫血的常见基因。
在参与本研究的13926名浙江南部育龄妇女中，15.14%（2109/13926）检测到常见变异。SMA、HL和地中海贫血的携带频率分别为2.11%（294/13926）、4.87%（678/13926）和8.82%（1228/13926）。共有56.47%（1117/1978）的丈夫被成功召回。高危夫妇总数为111对（111/13926，0.80%）。此外，47个家庭接受了产前诊断。共鉴定出13例（13/13926；0.93‰）受影响的妊娠。
我们的研究结果证实，与中国近期基于大样本人群的调查相比，SMA、HL和地中海贫血在浙江南部高度流行，具有一定的区域特异性。此外，建立了一种基于唾液样本的快速非侵入性筛查方法，并证明了其可行性。
