A polymorphism in the human apolipoprotein AI promoter region: a study in hypertriglyceridaemic patients
| Autor: | David J. Galton, R.K. Mattu, Alan Rees, Edward W. Needham, Joseph Stocks |
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| Rok vydání: | 1994 |
| Předmět: |
Male
Linkage disequilibrium Genotype DNA Mutational Analysis Molecular Sequence Data Mongoloid Biology medicine.disease_cause Polymerase Chain Reaction White People Asian People Gene Frequency Polymorphism (computer science) Genetics medicine Humans Promoter Regions Genetic Allele frequency Genetics (clinical) Alleles DNA Primers Hypertriglyceridemia Mutation Apolipoprotein A-I Base Sequence nutritional and metabolic diseases Promoter medicine.disease Haplotypes Restriction fragment length polymorphism Polymorphism Restriction Fragment Length |
| Zdroj: | Human heredity. 44(2) |
| ISSN: | 0001-5652 |
| Popis: | We examined the impact of a G--A mutation at position -75 of the apolipoprotein AI gene promoter in subjects with hypertriglyceridaemia from two racial groups, Caucasians (n = 52) and Japanese (n = 19) compared to their controls (n = 56 and n = 21 respectively). The mutation was genotyped by the polymerase chain reaction and subsequent digestion using HpaII, and BstNI. We found no significant differences in allele frequency in either control-control or case-control comparisons in European and Japanese populations. Linkage disequilibrium was observed between the mutation and the common alleles of two restriction fragment length polymorphisms, MspI and SstI located in the APOA1 and APOC3 genes, respectively, in the Japanese population. On the basis of these results, the G-75--A mutation is unlikely to be aetiological in predisposing to hypertriglyceridaemia. |
| Databáze: | OpenAIRE |
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