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KMID : 0191120040190060870
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Journal of Korean Medical Science
2004 Volume.19 No. 6 p.870 ~ p.873
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Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR
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Lee TM
Kim SW/Lee KS/Jin HS/Koo SK/Jo I/Kang S/Jung SC
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Abstract
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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 stud-ied 13 patients with SMA and their 24 parents, as well as 326 healthy normal indi-viduals. 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 west-ern countries. Since the prevalence of SMA is higher than other autosomal reces-sive disorders, the carrier detection method using real-time PCR could be a useful tool for genetic counseling.
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