ArticleAmerican journal of human genetics1997
Haplotype analysis of hemochromatosis: evaluation of different linkage-disequilibrium approaches and evolution of disease chromosomes.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 116 citations in OpenAlex.
- Quantitative trait locus linkage analysis in a large Amish pedigree identifies novel candidate loci for erythrocyte traits.Molecular genetics & genomic medicine · 2013Article
- The quest for better understanding of HLA-disease association: scenes from a road less travelled by.Discovery medicine · 2013Review
- Human genomic disease variants: a neutral evolutionary explanation.Genome research · 2012Review
- Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.Human genetics · 2011Article
- HLA haplotypes associated with hemochromatosis mutations in the Spanish population.BMC medical genetics · 2004Article
- The origin and spread of the HFE-C282Y haemochromatosis mutation.Human genetics · 2004Article
- SNP haplotypes and allele frequencies show evidence for disruptive and balancing selection in the human leukocyte receptor complex.Immunogenetics · 2004Article
- Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis.Human genetics · 2004Article
- A method for detecting recent selection in the human genome from allele age estimates.Genetics · 2003Article
- Frequencies of the hereditary hemochromatosis allele in different populations. Comparison of previous phenotypic methods and novel genotypic methods.International journal of hematology · 2003Article
- HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.BMC medical genetics · 2002Article
- Article
- Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations.American journal of human genetics · 2002Article
- The frequency of C282Y and H63D mutations in Hemochromatosis gene in native Estonians.European journal of epidemiology · 2001Article
- Effects of HFE C282Y and H63D polymorphisms and polygenic background on iron stores in a large community sample of twins.American journal of human genetics · 2000Article
- Linkage analysis in the presence of errors III: marker loci and their map as nuisance parameters.American journal of human genetics · 2000Article
- Predicting the range of linkage disequilibrium.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Effects of worldwide population subdivision on ALDH2 linkage disequilibrium.Genome research · 1999Article
- Non-C282Y familial iron overload: evidence for locus heterogeneity in haemochromatosis.Journal of medical genetics · 1998Article
- Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes.The American journal of pathology · 1998Article
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
We applied several types of linkage-disequilibrium calculations to analyze the hereditary hemochromatosis (hh) locus. Twenty-four polymorphic markers in the major histocompatibility complex (MHC) class I region were used to haplotype hh and normal chromosomes. A total of 169 hh and 161 normal chromosomes were analyzed. Disequilibrium values were found to be high over an unusually large region beginning 150 kb centromeric of HLA-A and extending nearly 5 Mb telomeric of it. Recombination in this region was approximately 28% of the expected value. This low level of recombination contributes to the unusually broad region of linkage disequilibrium found with hh. The strongest disequilibrium was found at locus HLA-H (delta = .84) and at locus D6S2239 (delta = .85), a marker approximately 10 kb telomeric to HLA-H. All disequilibrium methods employed in this study found peak disequilibrium at HLA-H or D6S2239. The cys282tyr mutation in HLA-H, a candidate gene for hh, was found in 85% of disease chromosomes. A haplotype phylogeny for hh chromosomes was constructed and suggests that the mutation associated with the most common haplotype occurred relatively recently. The age of the hh mutation was estimated to be approximately 60-70 generations. Disequilibrium was maintained over a greater distance for hh-carrying chromosomes, consistent with a recent mutation for hh. Our data provide a reasonable explanation for previous difficulties in localizing the hh locus and provide an evolutionary history for disease chromosomes.
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