Allelic associations of two polymorphic microsatellites in intron 40 of the human von Willebrand factor gene

Journal Article · Tue Jan 18 04:00:00 EST 1994 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.91.2.723· OSTI ID:6911071

Pena, S D.J.; De Souza, K T ^[1]; De Andrade, M; Chakraborty, R ^[2]

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1. Nucleo de Genetica Medica de Minas Gerais, Belo Horizonte (Brazil)
2. Univ. of Texas Graduate School of Biomedical Sciences, Houston, TX (United States)

At intron 40 of the von Willebrand factor (vWF) gene, two GATA-repeat polymorphic sites exist that are physically separated by 212 bp. At the first site (vWF1 locus), seven segregating repeat alleles were observed in a Brazilian Caucasian population, and at the second (vWF2 locus) there were eight alleles, detected through PCR amplifications of this DNA region. Haplotype analysis of individuals revealed 36 different haplotypes in a sample of 338 chromosomes examined. Allele frequencies between generations and gender at each locus were not significantly different, and the genotype frequencies were consistent with their Hardy-Weinberg expectations. Linkage disequilibrium between loci is highly significant with positive allele size association; that is, large alleles at the loci tend to occur together, and so do the same alleles. Variability at each locus appeared to have arisen in a stepwise fashion, suggesting replication slippage as a possible mechanism of production of new alleles. However, the authors observed an increased number of haplotypes, in contrast with the predictions of a stepwise production of variation in the entire region, suggesting some form of cooperative changes between loci that could be due to either gene conversion, or a common control mechanism of production of new variation at these repeat polymorphism sites. The high degree of polymorphism (gene diversity values of 72% and 78% at vWF1 and vWF2, respectively, and of 93% at the haplotype level) makes these markers informative for paternity testing, genetic counseling, and individual-identification purposes.

• OSTI ID: 6911071
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 91:2; ISSN PNASA6; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
BIOLOGICAL MARKERS
BIOLOGICAL VARIABILITY
BLOOD COAGULATION FACTORS
COAGULANTS
DRUGS
GENES
GENETIC VARIABILITY
HEMATOLOGIC AGENTS
HUMAN POPULATIONS
ORGANIC COMPOUNDS
POPULATIONS
PROTEINS