Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population
10.3343/alm.2020.40.4.326
- Author:
Jong Eun PARK
1
;
Sun Ae YUN
;
Eun Youn ROH
;
Jong Hyun YOON
;
Sue SHIN
;
Chang Seok KI
Author Information
1. Department of Laboratory Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea.
- Publication Type:Brief Communication
- From:Annals of Laboratory Medicine
2020;40(4):326-330
- CountryRepublic of Korea
- Language:English
-
Abstract:
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 SMN1 and SMN2 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 SMN1, and no homozygous SMN1 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.
