Incidence of Fragile X Syndrome in Korean Patients with Mental Retardation.
- Author:
Young Min CHOI
;
Do Yeong HWANG
;
Jong Kwan JUN
;
Jin CHOE
;
Sung Hyo PARK
;
Mee Kyung NOH
;
Sun Kyung OH
;
Seung Yup KU
;
Chang Suk SUH
;
Seok Hyun KIM
;
Se Won YANG
;
Soo Cheol CHO
;
Shin Yong MOON
;
Jin Yong LEE
- Publication Type:Original Article
- Keywords:
Fragile X syndrome;
Mental Retardation;
Southern blot analysis;
PCR;
Chromosome analysis;
Southern
- MeSH:
Cytogenetic Analysis;
Cytogenetics;
Diagnosis;
Fragile X Syndrome*;
Humans;
Incidence*;
Intellectual Disability*;
Molecular Biology;
Polymerase Chain Reaction;
Prevalence;
X Chromosome
- From:Korean Journal of Obstetrics and Gynecology
1999;42(11):2458-2464
- CountryRepublic of Korea
- Language:Korean
-
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.
