1. Abstract 2. Introduction 3. Models and methods 3.1. Haplotype block characterization 3.2. Measure of haplotype block LD 3.3. Test statistic and power calculation 3.4. Population genetic model of haplotype block 4. Results 4.1. Haplotype block LD measure 4.2. Power of the haplotype block LD mapping 4.3. Mapping 5. Discussion 6. Appendix 6.1. Appendix A 6.2. Appendix B 6.3. Appendix C 7. Refer...

In case-control studies, genetic associations for complex diseases may be probed either with single-locus tests or with haplotype-based tests. Although there are different views on the relative merits and preferences of the two test strategies, haplotype-based analyses are generally believed to be more powerful to detect genes with modest effects. However, a main drawback of haplotype-based ass...

Background: β-thalassemia as a hereditary disease is defined as defective synthesis of   β-globin chains, resulting in erythropoiesis abnormalities and severe anemia. Different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of   β-thalassemia. Single nucleotide polymorphisms (SNPs) within the promoter region or other regulatory sequences ...

OBJECTIVE Genetic association studies based on haplotypes are powerful in the discovery and characterization of the genetic basis of complex human diseases. However, statistical methods for detecting haplotype-haplotype and haplotype-environment interactions have not yet been fully developed owing to the difficulties encountered: large numbers of potential haplotypes and unknown haplotype pairs...

Recombination is thought to occur only rarely in animal mitochondrial DNA (mtDNA). However, detection of mtDNA recombination requires that cells become heteroplasmic through mutation, intramolecular recombination or 'leakage' of paternal mtDNA. Interspecific hybridization increases the probability of detecting mtDNA recombinants due to higher levels of sequence divergence and potentially higher...

The tau (MAPT) locus exists as two distinct clades, H1 and H2. The H1 clade has a normal linkage disequilibrium structure and is the only haplotype found in all populations except those derived from Caucasians. The H2 haplotype is the minor haplotype in Caucasian populations and is not found in other populations. It shows no recombination over a region of 2 Mb with the more common H1 haplotype....

recurrent aphthous stomatitis (ras) is known as the most common chronic disease of the oral cavity, which affects a range of 5-25% of the population. ras appears to be associated with some human leukocyte antigen (hla) class ii alleles and haplotypes. this study attempts to survey the distribution of hla-drb and -dqb alleles among iranian ras patients and healthy controls. in order to evaluate ...