The molecular basis of familial hypercholesterolaemia in Turkish patients.

摘要: Familial hypercholesterolaemia (FH) is an autosomal dominant disorder of lipoprotein metabolism. In the majority patients FH caused by mutations in gene for low-density receptor (LDLR), and to date more than 700 have been reported worldwide. this study, 36 paediatric with a clinical diagnosis (20 homozygous 16 heterozygotes) were screened LDLR gene. Each exon, intron-exon junctions, was capillary fluorescent SSCP (F-SSCP) heteroduplex analysis. Samples showing different band patterns sequenced. Ten novel (including three frame shift small deletions or insertions) seven known detected. A total 37 out predicted 56 FH-causing alleles identified (66.1%). No R3500Q mutation APOB found. W556R most common mutation, explaining 21.4% defective alleles. The sequence changes deemed be pathogenic if they altered conserved amino acid (L143P, D147E, Q233H-C234G, C347G) occurred close splice site (IVS 16+5) absent DNA from 50 healthy Turkish subjects. These data confirm genetic heterogeneity Turkey, demonstrate usefulness F-SSCP detection.