To investigate the utility of Y chromosome microsatellites for studying human male-lineage evolution, we typed samples from three populations for five tetranucleotide repeats and an Alu insertion polymorphism. We found very high levels of haplotype diversity and evidence that most mutations involve the gain or loss of only one repeat unit, implying that any given microsatellite haplotype may ha...

medullary thyroid carcinoma (mtc) occurs in both sporadic (75%) and hereditary (25%) forms. the missense mutations of the rearranged during transfection (ret) proto-oncogene in mtc development have been well demonstrated. the aim of this study was to investigate frequency of g691s/s904s haplotype in mtc patients and their relatives.in this research 293 participants were studied, including 181 p...

introduction: β-globin gene cluster haplotypes are useful in diagnosis of particular molecular defects in β-thalassemia, prenatal diagnosis of β-thalassemia, and elucidating population affinities. methods: β-globin gene cluster haplotypes were studied in 150 β-thalassemia minor and 52 healthy in-dividuals from the fars province of iran. dna was extracted from leukocytes of whole blood by phe-no...

One of the major interests of current genomics research is disease-gene association, that is, identifying which DNA variation or a set of DNA variations is highly associated with a specific disease. In particular, single nucleotide polymorphisms (SNPs), which are the most common form of DNA variation on the human genome, and a set of SNPs on one chromosome, referred to as a haplotype, are at th...

UNLABELLED We describe a software tool to perform haplotype-based association analysis, for quantitative and qualitative traits, in population and family samples, using single nucleotide polymorphism or multiallelic marker data. A range of tests is offered: omnibus and haplotype-specific tests; prospective and retrospective likelihoods; covariates and moderators; sliding window analyses; permut...

Haplotype analysis was used to refine of the DOXNPH locus, which harbors the susceptibility gene for doxorubicin (DOX; Adriamycin) nephropathy, a Mendelian form of selective podocyte injury. Analysis of haplotype structure in three strains with contrasting susceptibility (148 single-nucleotide polymorphisms at 101-kb spacing) was complementary to analysis of recombinants in 176 F2 mice. For exa...

Association mapping is usually performed by testing the correlation between a single marker and phenotypes. However, because patterns of variation within genomes are inherited as blocks, clustering markers into haplotypes for genome-wide scans could be a worthwhile approach to improve statistical power to detect associations. The availability of high-density molecular data allows the possibilit...