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.

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