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 deltadelta 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.
journal_name
J Korean Med Scijournal_title
Journal of Korean medical scienceauthors
Lee TM,Kim SW,Lee KS,Jin HS,Koo SK,Jo I,Kang S,Jung SCdoi
10.3346/jkms.2004.19.6.870keywords:
subject
Has Abstractpub_date
2004-12-01 00:00:00pages
870-3issue
6eissn
1011-8934issn
1598-6357pii
200412870journal_volume
19pub_type
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pub_type： 杂志文章
doi：10.3346/jkms.1995.10.4.287
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