Quantitative Analysis of SMN1 Gene and Estimation of SMN1 Deletion Carrier Frequency in Korean Population based on Real-Time PCR
Journal of Korean Medical Science
;
: 870-873, 2004.
Artigo
em Inglês
| WPRIM
| ID: wpr-27621
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Polimorfismo Genético
/
Análise Mutacional de DNA
/
Atrofia Muscular Espinal
/
Testes Genéticos
/
Fatores de Risco
/
Medição de Risco
/
Característica Quantitativa Herdável
/
Predisposição Genética para Doença
/
Reação em Cadeia da Polimerase Via Transcriptase Reversa
/
Heterozigoto
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
/
Fatores de risco
Limite:
Adulto
/
Idoso
/
Aged80
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Korean Medical Science
Ano de publicação:
2004
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS