Incidence of Fragile X Syndrome in Korean Patients with Mental Retardation / 대한산부인과학회잡지
Korean Journal of Obstetrics and Gynecology
;
: 2458-2464, 1999.
Article
in Korean
| WPRIM
| ID: wpr-49333
ABSTRACT
Fragile X syndrome is the most common cause of inherited mental retardation. It accounts for 0.2% - 2.7% of patients with mental retardation, based upon the molecular genetic diagnosis. However, the exact prevalence of fragile X syndrome in Korean patients with mental retardation is unknown. We have performed cytogenetic and molecular analysis for fragile X syndrome in 212 Korean patients with mental retardation. Among them, six patients (2.8%) was identified as carrying fragile X syndrome by both cytogenetic and molecular analysis. The results by cytogenetic analysis was identical to those by molecular analysis. Cytogenetic analysis of 6 carriers (mothers of patients with proven fragile X syndrome) showed a fragile X chromosome in one patients (16.7%) while molecular analysis revealed premutation in all patients. PCR method using Klentaq1 Pfu polymerase showed the same results as those by PCR method using Exo(-) Pfu polymerase, but the former method is recommended because of its simplicity in technical aspect. These data suggest that the prevalence of fragile X syndrome in Korean patients with mental retardation is 2.8%, not significantly different from those in Caucasians.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
X Chromosome
/
Polymerase Chain Reaction
/
Incidence
/
Prevalence
/
Cytogenetic Analysis
/
Cytogenetics
/
Diagnosis
/
Fragile X Syndrome
/
Intellectual Disability
/
Molecular Biology
Type of study:
Diagnostic study
/
Incidence study
/
Prevalence study
/
Prognostic study
Limits:
Humans
Language:
Korean
Journal:
Korean Journal of Obstetrics and Gynecology
Year:
1999
Type:
Article
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