Parametric linkage analysis and disequilibrium methods to identify loci for complex disease.
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.
McClintick
J
J
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Koller
D L
DL
Pankratz
N
N
Kirkwood
S C
SC
Naughton
B
B
Foroud
T
T
D000483:Alleles; D002874:Chromosome Mapping / Q000706:statistics & numerical data*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008126:Lod Score; D019683:Penetrance; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics