| This thesis introduces three bio-statistical concepts: Hardy-Weinberg equilibrium, linkage disequilibrium, and haplotype reconstruction and haplotype frequency estimation. Three statistical methods have been discussed and utilized to test these concepts for a population genetics study.; Hardy-Weinberg equilibrium is a basis for genetic inference. It is tested through the exact test implemented by the Arlequin software package. Linkage disequilibrium is an important tool for mapping disease genes. It is tested with a likelihood-ratio test, whose key procedure is the Expectation-Maximum algorithm, implemented by the Arlequin software package. Haplotype information is essential for mapping disease. The haplotype frequencies are estimated through the Bayesian estimation method implemented by the PHASE software package.; The above concepts and tests have been applied to the Isle of Wight cohort study. It has been found that all the loci of interest (hCV8932056, hCV15862743, hCV8932053, and hCV8932052 on the IL13 gene) are in Hardy-Weinberg equilibrium, and that all pair-wise loci are in linkage disequilibrium. The haplotypes of the most informative SNP pair, hCV8932056 and hCV8932052, have been reconstructed; their frequencies are estimated for eight phenotypes of interests. The contingency tests suggest that there is no association between the haplotype patterns CA/CG/TA/TG and CA/TA/TG and allergic asthma. |
