Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR.
10.3346/jkms.2004.19.6.870
- Author:
Tae Mi LEE
1
;
Sang Wun KIM
;
Kwang Soo LEE
;
Hyun Seok JIN
;
Soo Kyung KOO
;
Inho JO
;
Seongman KANG
;
Sung Chul JUNG
Author Information
1. Division of Genetic Disease, Department of Biomedical Sciences, National Institute of Health, Seoul, Korea.
- Publication Type:Original Article ; Clinical Trial
- Keywords:
Muscular Atrophy, Spinal;
SMN Protein;
Gene Deletion;
Heterozygote;
Polymerase Chain Reac-tion;
PCR, Real-time
- MeSH:
Adult;
Aged;
Aged, 80 and over;
DNA Mutational Analysis/*methods;
Female;
Genetic Predisposition to Disease/epidemiology;
Genetic Screening/*methods;
Heterozygote;
Heterozygote Detection/methods;
Humans;
Korea/epidemiology;
Male;
Middle Aged;
Muscular Atrophy, Spinal/*epidemiology/genetics/*metabolism;
Nerve Tissue Proteins/*genetics;
Polymorphism, Genetic;
*Quantitative Trait, Heritable;
Reverse Transcriptase Polymerase Chain Reaction/*methods;
Risk Assessment/*methods;
Risk Factors
- From:Journal of Korean Medical Science
2004;19(6):870-873
- CountryRepublic of Korea
- Language:English
-
Abstract:
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, caused by homozygous absence of the survival motor neuron gene (SMN1) in approximately 94% of patients. Since most carriers have only one SMN1 gene copy, several SMN1 quantitative analyses have been used for the SMA carrier detection. We developed a reliable quantitative real-time PCR with SYBR Green I dye and studied 13 patients with SMA and their 24 parents, as well as 326 healthy normal individuals. The copy number of the SMN1 gene was determined by the comparative threshold cycle (Ct) method and albumin was used as a reference gene. The homozygous SMN1 deletion ratio of patients was 0.00 and the hemizygous SMN1 deletion ratio of parents ranged from 0.39 to 0.59. The delta delta Ct ratios of 7 persons among 326 normal individuals were within the carrier range, 0.41-0.57. According to these data, we estimated the carrier and disease prevalence of SMA at 1/47 and 1/8,496 in Korean population, respectively. These data indicated that there would be no much difference in disease prevalence of SMA compared with western countries. Since the prevalence of SMA is higher than other autosomal recessive disorders, the carrier detection method using real-time PCR could be a useful tool for genetic counseling.
