1.The prevalence study on restriction fragment length polymorphism analysis for the detection of hemophilia A carrier.
Kyung Soon SONG ; Chang Hoon LEE ; Chong Sin CHUNG ; Kook LEE ; Young Ho YANG ; Kir Young KIM
Yonsei Medical Journal 1993;34(3):239-242
We have analyzed two (BclI and XbaI) intragenic restriction fragment length polymorphisms (RFLPs) and St14 (DXS52) variable number of tandem repeats (VNTR) by rapid PCR method in 97 unrelated normal subjects. The incidences for positive Bc1I and XbaI polymorphic sites in the Koreans were 81% and 72%, respectively, which were higher than other ethnic groups but similar to that reported in the Chinese or Japanese, giving the heterozygosity rate of 0.32 and 0.40, respectively. The amplified allele size was 880 bp with no other polymorphism in the analysis of St14 (DXS52) VNTR. This finding should be taken into account in the planning of a prenatal diagnosis program for ethnic Koreans
Base Sequence
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Gene Frequency
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Hemophilia A/epidemiology/*genetics
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*Heterozygote Detection/methods
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Human
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Korea/epidemiology
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Molecular Sequence Data
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Polymerase Chain Reaction
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Polymorphism, Restriction Fragment Length
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Prevalence
2.Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR.
Tae Mi LEE ; Sang Wun KIM ; Kwang Soo LEE ; Hyun Seok JIN ; Soo Kyung KOO ; Inho JO ; Seongman KANG ; Sung Chul JUNG
Journal of Korean Medical Science 2004;19(6):870-873
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.
Adult
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Aged
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Aged, 80 and over
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DNA Mutational Analysis/*methods
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Female
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Genetic Predisposition to Disease/epidemiology
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Genetic Screening/*methods
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Heterozygote
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Heterozygote Detection/methods
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Humans
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Korea/epidemiology
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Male
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Middle Aged
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Muscular Atrophy, Spinal/*epidemiology/genetics/*metabolism
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Nerve Tissue Proteins/*genetics
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Polymorphism, Genetic
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*Quantitative Trait, Heritable
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Reverse Transcriptase Polymerase Chain Reaction/*methods
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Risk Assessment/*methods
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Risk Factors