Department of Laboratory Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea.
Center for Clinical Medicine, Samsung Biomedical Research Institute, Samsung Medical Center, Seoul, Korea.
Ann Lab Med. 2020 Jul;40(4):326-330. doi: 10.3343/alm.2020.40.4.326.
Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by progressive proximal muscle weakness and atrophy. Given the recent introduction of gene therapies, knowledge of the SMA carrier frequency in various populations has become important for developing screening programs for this disease. In total, 1,581 anonymous DNA samples from an umbilical cord blood bank were tested for and gene copies using a multiplex ligation-dependent probe amplification assay. Twenty-nine of the 1,581 newborns [1.83%; 95% confidence interval (CI), 1.25-2.66%] were SMA carriers with one copy of , and no homozygous deletion was detected. The carrier frequency in this population was estimated to be 1,834 per 100,000 (95% CI, 1,254-2,659) or 1 in 55 (95% CI, 1/79-1/38). Our data indicate that SMA carriers are not uncommon in the Korean population and may serve as a reference for designing a population screening program in Korea.
脊髓性肌萎缩症（SMA）是一种常染色体隐性疾病，其特征是进行性近端肌肉无力和萎缩。鉴于最近引入了基因疗法，因此了解各种人群中的 SMA 携带者频率对于开发该疾病的筛查计划变得很重要。总共使用多重连接依赖性探针扩增测定法对脐带血库的 1581 个匿名 DNA 样本进行了 和 基因拷贝的检测。在 1581 名新生儿中，有 29 名（1.83%；95%置信区间[CI]，1.25-2.66%）为 SMA 携带者，他们各携带一条 ，未检测到纯合 的缺失。该人群中的携带者频率估计为每 100,000 人中有 1834 人（95%CI，1254-2659），即 1/55（95%CI，1/79-1/38）。我们的数据表明，SMA 携带者在韩国人群中并不罕见，可为韩国设计人群筛查计划提供参考。
