Abstract

This is a proposal to investigate the properties of a series of 110 hypervariable loci in 11 defined human populations. The overall objective of the research is to improve our understanding of the biology of hypervariable loci. Hypervariable loci in non-transcribed, transcribed and translated regions will be compared to test the hypothesis that, because of natural selection, intrapopulation variance is reduced in coding regions. Variation in allele sizes will be compared in disease-causing trinucleotide systems versus trinucleotide systems that do not cause disease. It is hypothesized that the former will have higher mutation rates than the latter. Measures of interpopulation genetic variance will be evaluated to search for the possible effects of natural selection (in particular, balancing vs. directional or disruptive selection). Mutation rates will be measured and compared for each class of hypervariable loci (di-, tri-, and tetranucleotides), using family data. Frequency distributions of these loci will be examined to determine whether there are functional constraints on allele size.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Research Project (R01)
Project #
5R01GM045861-07
Application #
2724130
Study Section
Mammalian Genetics Study Section (MGN)
Project Start
1992-08-01
Project End
2001-04-30
Budget Start
1998-05-01
Budget End
1999-04-30
Support Year
7
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
University of Cincinnati
Department
Public Health & Prev Medicine
Type
Schools of Medicine
DUNS #
City
Cincinnati
State
OH
Country
United States
Zip Code
45221

  Publications

Li, Biao; Kimmel, Marek (2013) Factors influencing ascertainment bias of microsatellite allele sizes: impact on estimates of mutation rates. Genetics 195:563-72
Sun, Guangyun; McGarvey, Stephen T; Bayoumi, Riad et al. (2003) Global genetic variation at nine short tandem repeat loci and implications on forensic genetics. Eur J Hum Genet 11:39-49
Bobrowski, Adam; Wang, Ning; Chakraborty, Ranajit et al. (2002) Non-homogeneous infinite sites model under demographic change: mathematical description and asymptotic behavior of pairwise distributions. Math Biosci 175:83-115
Sans, Monica; Weimer, Tania A; Franco, Maria Helena L P et al. (2002) Unequal contributions of male and female gene pools from parental populations in the African descendants of the city of Melo, Uruguay. Am J Phys Anthropol 118:33-44
Cerda-Flores, Ricardo M; Villalobos-Torres, Maria C; Barrera-Saldana, Hugo A et al. (2002) Genetic admixture in three Mexican Mestizo populations based on D1S80 and HLA-DQA1 loci. Am J Hum Biol 14:257-63
Olofsson, P; Schwalb, O; Chakraborty, R et al. (2001) An application of a general branching process in the study of the genetics of aging. J Theor Biol 213:547-57
Su, B; Sun, G; Lu, D et al. (2000) Distribution of three HIV-1 resistance-conferring polymorphisms (SDF1-3'A, CCR2-641, and CCR5-delta32) in global populations. Eur J Hum Genet 8:975-9
Parra, E; Shriver, M D; Soemantri, A et al. (1999) Analysis of five Y-specific microsatellite loci in Asian and Pacific populations. Am J Phys Anthropol 110:1-16
Parra, E; Saha, N; Soemantri, A G et al. (1999) Genetic variation at 9 autosomal microsatellite loci in Asian and Pacific populations. Hum Biol 71:757-79
Cerda-Flores, R M; Barton, S A; Marty-Gonzalez, L F et al. (1999) Estimation of nonpaternity in the Mexican population of Nuevo Leon: a validation study with blood group markers. Am J Phys Anthropol 109:281-93

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