Book contents
- Frontmatter
- Contents
- List of contributors
- Preface
- 1 The legacy of the IBP: Presidential Address
- 2 The distinction between primary and secondary isolates
- 3 Time trends in the break-up of isolates
- 4 Factors influencing the frequency of consanguineous marriages in Japan
- 5 Break-up of isolates
- 6 Isolates in India: their origin and characterisation
- 7 Consanguineous marriages and their genetical consequences in some Indian populations
- 8 Biomedical and immunogenetic variation in isolated populations in India
- 9 Genetic distance analyses in Israeli groups using classical markers and DNA polymorphisms in the β globin gene
- 10 Non-random distribution of Gm haplotypes in northern Siberia
- 11 Allele frequency estimation
- 12 Genetic affinities of human populations
- 13 Inherited neurological diseases in island isolates in southern Japan
- 14 Serological and virological evidence for human T-lymphotropic virus type I infection among the isolated Hagahai of Papua New Guinea
- 15 Analysis of genes associated with hypercholesterolaemia in the Japanese population
- 16 Migrant studies and their problems
- 17 Tokelau: migration and health in a small Polynesian society - a longitudinal study
- 18 Micromigrations of isolated Tuareg tribes of the Sahara Desert
- 19 Population structure in the eastern Adriatic: the influence of historical processes, migration patterns, isolation and ecological pressures, and their interaction
- 20 Diabetes and diabetic macroangiopathy in Japanese-Americans
- 21 Diabetes and westernisation in Japanese migrants
- 22 Environmental factors affecting ischemic heart disease
- Epilogue
- Index
15 - Analysis of genes associated with hypercholesterolaemia in the Japanese population
Published online by Cambridge University Press: 05 March 2012
- Frontmatter
- Contents
- List of contributors
- Preface
- 1 The legacy of the IBP: Presidential Address
- 2 The distinction between primary and secondary isolates
- 3 Time trends in the break-up of isolates
- 4 Factors influencing the frequency of consanguineous marriages in Japan
- 5 Break-up of isolates
- 6 Isolates in India: their origin and characterisation
- 7 Consanguineous marriages and their genetical consequences in some Indian populations
- 8 Biomedical and immunogenetic variation in isolated populations in India
- 9 Genetic distance analyses in Israeli groups using classical markers and DNA polymorphisms in the β globin gene
- 10 Non-random distribution of Gm haplotypes in northern Siberia
- 11 Allele frequency estimation
- 12 Genetic affinities of human populations
- 13 Inherited neurological diseases in island isolates in southern Japan
- 14 Serological and virological evidence for human T-lymphotropic virus type I infection among the isolated Hagahai of Papua New Guinea
- 15 Analysis of genes associated with hypercholesterolaemia in the Japanese population
- 16 Migrant studies and their problems
- 17 Tokelau: migration and health in a small Polynesian society - a longitudinal study
- 18 Micromigrations of isolated Tuareg tribes of the Sahara Desert
- 19 Population structure in the eastern Adriatic: the influence of historical processes, migration patterns, isolation and ecological pressures, and their interaction
- 20 Diabetes and diabetic macroangiopathy in Japanese-Americans
- 21 Diabetes and westernisation in Japanese migrants
- 22 Environmental factors affecting ischemic heart disease
- Epilogue
- Index
Summary
Genes associated with hypercholesterolaemia have been detected and characterised at the loci for low density lipoprotein (LDL) receptor, apolipoprotein B, apolipoprotein E, and apolipoprotein (a) (Goldstein & Brown, 1989; Soria et al., 1989; Mahley & Rail, 1989; Utermann, 1989). Among them, genes at the loci for apolipoprotein E and apolipoprotein (a) are polymorphic and act as polymeric genes for multifactorial hypercholesterolaemia. These polymorphic genes have been identified by the analysis of proteins using electrophoretic methods. It is interesting to examine whether these polymorphic and seemingly deleterious genes are identical at the DNA and amino acid sequence levels among different ethnic groups. On the other hand, deleterious genes detected at the loci for LDL receptor and apolipoprotein B are not polymorphic but act as major genes which cause autosomal dominant hypercholesterolaemia. These genes have been shown to be a cause of premature coronary heart disease (Goldstein & Brown, 1989; Soria et al., 1989). The data obtained by the analysis of DNA suggest the same mutational origin for some of these deleterious genes (Goldstein & Brown, 1989) and their subsequent spread in populations.
This communication reports the results of molecular genetic studies on the phenotype E4 determined by the alleles at the locus for apolipoprotein E and on familial hypercholesterolaemia caused by the mutant LDL receptor gene in the Japanese population.
Apolipoprotein E4 in the Japanese population
Apolipoprotein E is a protein constituent of plasma lipoproteins and plays an important role in lipoprotein metabolism (Mahley, 1988). The genetic polymorphism of apolipoprotein E is under the control of three common alleles (ε2, ε3, ε4) that specify isoforms apolipoprotein E2, E3 and E4 respectively (Mahley & Rail, 1989).
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- Isolation, Migration and Health , pp. 154 - 166Publisher: Cambridge University PressPrint publication year: 1992
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