ArticleAmerican journal of human genetics2000
Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 50 papers.
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Who cites it
50 citing papers in PubMed, 163 citations in OpenAlex.
- Genetic etiology and clinical challenges of phenylketonuria.Human genomics · 2022Review
- The status ofMedical journal of the Islamic Republic of Iran · 2019Article
- Frequency of the VNTR-Polymorphisms at the PAH Gene in the Iranian Azeri Turkish Patients with Phenylketonuria.Maedica · 2015Article
- Molecular Genetic Analysis of the Variable Number of Tandem-Repeat Alleles at the Phenylalanine Hydroxylase Gene in Iranian Azeri Turkish Population.Iranian biomedical journal · 2015Article
- The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.Journal of human genetics · 2014Article
- The origin of Eastern European Jews revealed by autosomal, sex chromosomal and mtDNA polymorphisms.Biology direct · 2010Article
- The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase.Molecular psychiatry · 2010Article
- Modeling Informatively Missing Genotypes in Haplotype Analysis.Communications in statistics: theory and methods · 2009Article
- Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.The pharmacogenomics journal · 2008Article
- Efficacy assessment of SNP sets for genome-wide disease association studies.Nucleic acids research · 2007Article
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- Efficient selection of tagging single-nucleotide polymorphisms in multiple populations.Human genetics · 2006Article
- Signatures of demographic history and natural selection in the human major histocompatibility complex Loci.Genetics · 2006Article
- Extreme population differences across Neuregulin 1 gene, with implications for association studies.Molecular psychiatry · 2006Article
- The effect of single-nucleotide polymorphism marker selection on patterns of haplotype blocks and haplotype frequency estimates.American journal of human genetics · 2005Article
- Haplotype tagging efficiency in worldwide populations in CTLA4 gene.Genes and immunity · 2005Article
- Use of autosomal loci for clustering individuals and populations of East Asian origin.Human genetics · 2005Article
- Genetic structure in four West African population groups.BMC genetics · 2005Article
- A comparison of linkage disequilibrium patterns and estimated population recombination rates across multiple populations.American journal of human genetics · 2005Article
- p53 polymorphisms in Russia and Belarus: correlation of the 2-1-1 haplotype frequency with longitude.Molecular genetics and genomics : MGG · 2005Article
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Authors and funding
12 authors at 7 institutions in 4 countries.
Funding
Abstract
Because defects in the phenylalanine hydroxylase gene (PAH) cause phenylketonuria (PKU), PAH was studied for normal polymorphisms and linkage disequilibrium soon after the gene was cloned. Studies in the 1980s concentrated on European populations in which PKU was common and showed that haplotype-frequency variation exists between some regions of the world. In European populations, linkage disequilibrium generally was found not to exist between RFLPs at opposite ends of the gene but was found to exist among the RFLPs clustered at each end. We have now undertaken the first global survey of normal variation and disequilibrium across the PAH gene. Four well-mapped single-nucleotide polymorphisms (SNPs) spanning approximately 75 kb, two near each end of the gene, were selected to allow linkage disequilibrium across most of the gene to be examined. These SNPs were studied as PCR-RFLP markers in samples of, on average, 50 individuals for each of 29 populations, including, for the first time, multiple populations from Africa and from the Americas. All four sites are polymorphic in all 29 populations. Although all but 5 of the 16 possible haplotypes reach frequencies >5% somewhere in the world, no haplotype was seen in all populations. Overall linkage disequilibrium is highly significant in all populations, but disequilibrium between the opposite ends is significant only in Native American populations and in one African population. This study demonstrates that the physical extent of linkage disequilibrium can differ substantially among populations from different regions of the world, because of both ancient genetic drift in the ancestor common to a large regional group of modern populations and recent genetic drift affecting individual populations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.