Determination of SMN1 and SMN2 copy numbers in a Korean population using multiplex ligation-dependent probe amplification

Korean Journal of Laboratory Medicine

Volumn 30, Issue 1, 2010, Pages 93-96

  Yoon, Seoyoung ^a   Lee, Chang Hoon ^b   Lee, Kyung A ^a  

^a Yonsei University College of Medicine   (South Korea)

^b Konkuk University School of Medicine   (South Korea)

Author keywords

Carrier; Copy number; Koreans; Multiplex ligation dependent probe amplification; Spinal muscular atrophy; Survival motor neuron gene

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2;

ASIAN; GENE DOSAGE; GENETICS; HETEROZYGOTE; HUMAN; NUCLEIC ACID AMPLIFICATION; REVIEW; SOUTH KOREA; SPINAL MUSCULAR ATROPHY;

ASIAN CONTINENTAL ANCESTRY GROUP; GENE DOSAGE; HETEROZYGOTE; HUMANS; MUSCULAR ATROPHY, SPINAL; NUCLEIC ACID AMPLIFICATION TECHNIQUES; REPUBLIC OF KOREA; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN;

EID: 77954853957     PISSN: 15986535     EISSN: None     Source Type: Journal    
DOI: 10.3343/kjlm.2010.30.1.93     Document Type: Review

References (12)

1. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65.
2. Ogino S and Wilson RB. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn 2004;4:15-29.
3. Hendrickson BC, Donohoe C, Akmaev VR, Sugarman EA, Labrousse P, Boguslavskiy L, et al. Differences in SMN1 allele frequencies among ethnic groups within North America. J Med Genet 2009;46:641-4.
4. Prior TW. Carrier screening for spinal muscular atrophy. Genet Med 2008;10:840-2.
5. Lee TM, Kim SW, Lee KS, Jin HS, Koo SK, Jo I, et al. Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in Korean population based on real-time PCR. J Korean Med Sci 2004;19:870-3.
6. Su YN, Hung CC, Li H, Lee CN, Cheng WF, Tsao PN, et al. Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test. Hum Mutat 2005;25:460-7.
7. van der Steege G, Grootscholten PM, van der Vlies P, Draaijers TG, Osinga J, Cobben JM, et al. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet 1995;345:985-6.
8. Wang CC, Chang JG, Jong YJ, Wu SM. Universal multiplex PCR and CE for quantification of SMN1/SMN2 genes in spinal muscular atrophy. Electrophoresis 2009;30:1102-10.
9. Scarciolla O, Stuppia L, De Angelis MV, Murru S, Palka C, Giuliani R, et al. Spinal muscular atrophy genotyping by gene dosage using multiple ligation-dependent probe amplification. Neurogenetics 2006;7:269-76.
10. Cusin V, Clermont O, Gerard B, Chantereau D, Elion J. Prevalence of SMN1 deletion and duplication in carrier and normal populations: implication for genetic counselling. J Med Genet 2003;40:e39.
11. Ogino S, Wilson RB, Gold B. New insights on the evolution of the SMN1 and SMN2 region: simulation and meta-analysis for allele and haplotype frequency calculations. Eur J Hum Genet 2004;12:1015-23.
12. Huang CH, Chang YY, Chen CH, Kuo YS, Hwu WL, Gerdes T, et al. Copy number analysis of survival motor neuron genes by multiplex ligation-dependent probe amplification. Genet Med 2007;9:241-8.