Parametric linkage analysis and disequilibrium methods to identify loci for complex disease

Genet Epidemiol. 2001:21 Suppl 1:S528-33. doi: 10.1002/gepi.2001.21.s1.s528.

Abstract

A two-step process was used to find loci contributing to the qualitative disease phenotype in the Genetic Analysis Workshop (GAW) 12 simulated data. The first step used parametric linkage analysis with a limited number of dominant and recessive models to detect linkage to chromosomal regions. Subsequently, a subset of the simulated biallelic sequence polymorphisms was used for transmission/disequilibrium tests and to build haplotypes to fine map the disease-predisposing polymorphism(s). A haplotype, strongly associated with the disease phenotype whose proximal end was within 39 base pairs of the functional allele for simulated major gene 6, was identified in the isolated population.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Alleles
  • Chromosome Mapping / statistics & numerical data*
  • Genetic Predisposition to Disease / genetics*
  • Genetics, Population
  • Haplotypes / genetics
  • Humans
  • Linkage Disequilibrium / genetics*
  • Lod Score
  • Penetrance
  • Phenotype*
  • Polymorphism, Single Nucleotide / genetics