The worldwide distribution of the VHL 598C>T mutation indicates a single founding event

Liu, Enli; Percy, Melanie J.; Amos, Christopher I.; Guan, Yongli; Shete, Sanjay; Stockton, David W.; McMullin, Mary F.; Polyakova, Lydia A.; Ang, Sonny O.; Pastore, Yves D.; Jedlickova, Katerina; Lappin, Terry R. J.; Gordeuk, Victor; Prchal, Josef T.

doi:10.1182/blood-2003-07-2550

Cited by 66Genetic Associations and EpidemiologyForensic and Genetic ResearchGenomics and Rare Diseases

The worldwide distribution of the VHL 598C>T mutation indicates a single founding event

Liu, Enli, Percy, Melanie J., Amos, Christopher I., Guan, Yongli, Shete, Sanjay, Stockton, David W., McMullin, Mary F., Polyakova, Lydia A. +6 more·2004·Blood

DOI 10.1182/blood-2003-07-2550

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Abstract

The first congenital defect of hypoxia-sensing homozygosity for VHL 598C>T mutation was recently identified in Chuvash polycythemia. Subsequently, we found this mutation in 11 unrelated individuals of diverse ethnic backgrounds. To address the question of whether the VHL 598C>T substitution occurred in a single founder or resulted from recurrent mutational events in human evolution, we performed haplotype analysis of 8 polymorphic markers covering 340 kb spanning the VHL gene on 101 subjects bearing the VHL 598C>T mutation, including 72 homozygotes (61 Chuvash and 11 non-Chuvash) and 29 heterozygotes (11 Chuvash and 18 non-Chuvash), and 447 healthy unrelated individuals from Chuvash and other ethnic groups. The differences in allele frequencies for each of the 8 markers between 447 healthy controls (598C) and 101 subjects bearing the 598T allele (P < 10(-7)) showed strong linkage disequilibrium. Haplotype analysis indicated a founder effect. We conclude that the VHL 598C>T mutation, the most common defect of congenital polycythemia yet found, was spread from a single founder 1,000 to 62,000 years ago.

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Maxwell, P. H., Wiesener, M. S., Chang, G.-W., Clifford, S. C., Vaux, E. C., Cockman, M. E., Wykoff, C. C., Pugh, C. W., Maher, E. R., & Ratcliffe, P. J. (1999) · Nature · doi:10.1038/20459 · Cited by 5,180 · see citing works
Parametric and nonparametric linkage analysis: a unified multipoint approach.
Kruglyak, L., Daly, M. J., Daly, M. J., & Lander, E. S. (1996) · PubMed Central · Cited by 2,883 · see citing works
Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population.
(1995) · Molecular Biology and Evolution · doi:10.1093/oxfordjournals.molbev.a040269 · Cited by 1,950 · see citing works
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Laughner, E., Taghavi, P., Chiles, K., Mahon, P. C., & Semenza, G. L. (2001) · Molecular and Cellular Biology · doi:10.1128/mcb.21.12.3995-4004.2001 · Cited by 1,256 · see citing works
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Ang, S. O., Chen, H., Hirota, K., Gordeuk, V. R., Jelinek, J., Guan, Y., Liu, E., Sergueeva, A. I., Miasnikova, G. Y., Mole, D., et al. (2002) · Nature Genetics · doi:10.1038/ng1019 · Cited by 510 · see citing works
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RISCH, N. J., de Leon, D., Ozelius, L. J., Kramer, P., Almasy, L. A., Singer, B. H., Fahn, S., Breakefield, X. O., & Bressman, S. (1995) · Nature Genetics · doi:10.1038/ng0295-152 · Cited by 426 · see citing works
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Crossey, P. A., Richards, F. M., Foster, K., reen, J. S., Prowse, A. H., Latlf, F., Lerman, M. I., Zbar, B., Atfara, N. A., Ferguson-Smith, M. A., et al. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.8.1303 · Cited by 382 · see citing works
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Safran, M., & Kaelin, W. G. (2003) · Journal of Clinical Investigation · doi:10.1172/jci200318181 · Cited by 365 · see citing works
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Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry
Percy, M. J., McMullin, M. F., Jowitt, S. N., Potter, M., Treacy, M., Watson, W. H., & Lappin, T. R. J. (2003) · Blood · doi:10.1182/blood-2002-10-3246 · Cited by 90 · see citing works
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Mander, A. (2001) · The Stata Journal Promoting communications on statistics and Stata · doi:10.1177/1536867x0100100104 · Cited by 55 · see citing works
A PCR generated AccI RFLP in the 3′ untranslated region of the von Hippel — Lindau disease (VHL) tumour suppressor gene
Payne, S. J., Richards, F. M., & Maher, E. R. (1994) · Human Molecular Genetics · doi:10.1093/hmg/3.2.390 · Cited by 21 · see citing works

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Maher, E. R. (2006) · CRC Press eBooks · doi:10.1201/b13439-61 · Cited by 2 · see citing works
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Toncheva, D. I., Marinova, M., Borovskа, P., & Serbezov, D. (2023) · Biotechnology & Biotechnological Equipment · doi:10.1080/13102818.2022.2151376 · Cited by 2 · see citing works
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Untitled work
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Authors: Liu, E., Percy, M. J., Amos, C. I., Guan, Y., Shete, S., Stockton, D. W., McMullin, M. F., Polyakova, L. A., Ang, S. O., Pastore, Y. D., Jedlickova, K., Lappin, T. R. J., Gordeuk, V., & Prchal, J. T.
Affiliations: Queen's University Belfast (GB)
ORCID: Amos, Christopher I.
Shete, Sanjay
McMullin, Mary F.
Pastore, Yves D.
Gordeuk, Victor
Prchal, Josef T.
Venue: Blood
Publisher: American Society of Hematology
Published: 2004-03-01
Volume: 103
Issue: 5
Pages: 1937-1940
ISSN: 0006-4971 (ISSN-L)
1528-0020
DOI: 10.1182/blood-2003-07-2550
OpenAlex: W2117916297
Cited by: 66
References: 18
Citations by year: 2026: 1 · 2024: 1 · 2023: 3 · 2021: 5 · 2019: 1 · 2018: 2 · 2016: 3 · 2015: 3 · 2014: 3 · 2013: 4 · 2012: 2
FWCI: 2.28
Type: journal article
Language: en
Open access: closed
Locations: Blood (publishedVersion)
PubMed (publishedVersion)
Research Portal (Queen's University Belfast) (submittedVersion)
Funders: University of Texas MD Anderson Cancer Center
National Heart, Lung, and Blood Institute (HL66333, UH1HL003679, R01HL066333)
National Human Genome Research Institute (R01HG002275)
National Center for Research Resources (M01RR010284)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: von Hippel-Lindau gene, founder effect, Chuvash polycythemia, haplotype analysis, linkage disequilibrium, allele frequency, human evolution
MeSH terms: Alleles, DNA Mutational Analysis, Gene Frequency, Haplotypes, Homozygote, Humans, Models, Genetic, Mutation, Polycythemia, Polymorphism, Genetic, Genetic Variation, Founder Effect, Mutation, Missense, Tumor Suppressor Proteins, Ubiquitin-Protein Ligases, Von Hippel-Lindau Tumor Suppressor Protein

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The worldwide distribution of the VHL 598C>T mutation indicates a single founding event

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