Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia
| Autor: | J. Vergotine, D. Gaffney, Christiaan F. Hoogendijk, Klaus Brusgaard, Charlotte L. Scholtz, Rochelle Thiart, Henrik Nissen, J. N. P. De Villiers, W. J. Vermaak, M. S. Hoffs, Maritha J. Kotze |
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| Rok vydání: | 2000 |
| Předmět: |
Adult
Male Silent mutation medicine.medical_specialty Adolescent DNA Mutational Analysis Population Black People Locus (genetics) Heteroduplex Analysis Familial hypercholesterolemia Biology Hyperlipoproteinemia Type II South Africa Exon Molecular genetics Prevalence Genetics medicine Humans Point Mutation Missense mutation Child Promoter Regions Genetic education Polymorphism Single-Stranded Conformational Genetics (clinical) Apolipoproteins B Sequence Deletion education.field_of_study Polymorphism Genetic Point mutation Original Articles Exons Middle Aged medicine.disease Molecular biology Introns Pedigree Receptors LDL Child Preschool lipids (amino acids peptides and proteins) Female |
| Zdroj: | Thiart, R, Scholtz, C L, Vergotine, J, Hoogendijk, C F, de Villiers, J N P, Nissen, H, Brusgaard, K, Gaffney, D, Hoffs, M S, Hayward Vermaak, W J & Kotze, M J 2000, ' Predominance of a 6-bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia ', Journal of Medical Genetics, vol. 37, no. 7, pp. 514-19 . https://doi.org/10.1136/jmg.37.7.514 Scopus-Elsevier |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.37.7.514 |
| Popis: | In South Africa, the high prevalence of familial hypercholesterolaemia (FH) among Afrikaners, Jews, and Indians as a result of founder genes is in striking contrast to its reported virtual absence in the black population in general. In this study, the molecular basis of primary hypercholesterolaemia was studied in 16 Africans diagnosed with FH. DNA analysis using three screening methods resulted in the identification of seven different mutations in the coding region of the low density lipoprotein (LDLR) gene in 10 of the patients analysed. These included a 6 bp deletion (GCGATG) accounting for 28% of defective alleles, and six point mutations (D151H, R232W, R385Q, E387K, P678L, and R793Q) detected in single families. The Sotho patient with missense mutation R232W was also heterozygous for a de novo splicing defect 313+1G→A. Several silent mutations/polymorphisms were detected in the LDLR and apolipoprotein B genes, including a base change (g→t) at nucleotide position −175 in the FP2 LDLR regulatory element. This promoter variant was detected at a significantly higher (p |
| Databáze: | OpenAIRE |
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