Screening for mutations in exons encoding the ligand-binding domain of the LDL receptor gene using PCR-CFLP and PCR-SSCP.
J Med Assoc Thai
; 84 Suppl 3: S619-27, 2001 Dec.
Article
de En
| MEDLINE
| ID: mdl-12002902
ABSTRACT
Primary hypercholesterolemia includes both monogenic disorders and polygenic conditions. Two well defined monogenic disorders are familial hypercholesterolemia (FH) and familial defective apolipoprotein (apo) B-100 (FDB). Both disorders convey high risk of premature coronary artery disease. FH and FDB are caused by mutations in LDL receptor and apo B-100 genes, respectively. In the present study, mutations in both genes in Thai subjects with primary hypercholesterolemia were screened. For apo B-100 gene, a common mutation R3500Q was screened. This mutation was not observed in the patients (n = 45). For LDL receptor gene, mutations in the exons encoding the ligand-binding domain were screened. By PCR-CFLP analysis, 18 abnormal CFLP patterns in exon 4, the hot spot for mutations, were found in patients (n=45). One of the DNA samples with abnormal CFLP patterns was previously identified and reported as a possible disease-causing mutation, namely D151Y. For the other exons, the screening technique was PCR-SSCP. Abnormal SSCP patterns in DNA samples from patients (n=20) were found as follows, two in exon 3, one in exon 5 and another one in exon 6. Further characterization by DNA sequencing and family studies for these abnormal patterns are underway.
Recherche sur Google
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Récepteurs aux lipoprotéines LDL
/
Réaction de polymérisation en chaîne
/
Hypercholestérolémie
/
Mutation
Type d'étude:
Diagnostic_studies
/
Screening_studies
Limites:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Pays/Région comme sujet:
Asia
Langue:
En
Journal:
J Med Assoc Thai
Année:
2001
Type de document:
Article
Pays d'affiliation:
Thaïlande