Recent studies suggest that the genome is organized into blocks of haplotypes, and efforts to create a genome-wide haplotype map of single-nucleotide polymorphisms (SNPs) are already underway. Haplotype blocks are defined algorithmically and to date several algorithms have been proposed. However, little is known about their relative performance in real data or about the impact of allele frequen...

Population samples from Angola, Mozambique, and S. Tomé e Príncipe were screened for the TPI gene promoter variants -5A-->G, -8G-->A and -24T-->G. Three haplotypes were identified in the three populations: the haplotype -5A-8G-24T (average frequency 65.3%) and two less common haplotypes -5G-8G-24T (average frequency 24.7%) and -5G-8A-24T (average frequency 10.0%). A population sample from Centr...

Inflammatory bowel disease (IBD), including ulcerative colitis (UC) and Crohn's disease (CD), is a chronic inflammatory disorder characterized by intractable inflammation specific to the gastrointestinal tract. The precise etiology of IBD remains unknown. Recently, haplotypes of peptidylarginine deiminase type 4 (PADI4) have been identified as the rheumatoid arthritis (RA)-susceptible gene. PAD...

BACKGROUND 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. METHODS In this research 293 participants were st...

INTRODUCTION Recent data have suggested that specific haplotypic variants of the DLG5 gene on chromosome 10q23 may be associated with susceptibility to inflammatory bowel disease (IBD) in Germany. Haplotype D, notably characterised by the presence of a G-->A substitution at nucleotide 113, was associated with susceptibility to Crohn's disease (CD) whereas an extended haplotype A conferred prote...

The probable ancestral haplotype for human apolipoprotein B (apoB) has been identified through immunological analysis of chimpanzee and gorilla serum and sequence analysis of their DNA. Moreover, the frequency of this ancestral apoB haplotype among different human populations provides strong support for the African origin of Homo sapiens sapiens and their subsequent migration from Africa to Eur...

purpose: to evaluate the distribution of tnf-alpha promoter -1031t/c and -308g/a polymorphisms in an iranian population with behcet disease and ocular manifestation. method: we investigated the distribution of tnf-alpha promoter -1031t/c and -308g/a polymorphisms in 53 patients with behcet disease (bd) and 79 matched healthy controls, using the pcr-rflp technique. all subjects were from an iran...

Factor V gene polymorphisms were investigated to detect components that may contribute to the activated protein C (APC) resistance phenotype in patients with venous thromboembolism. A specific factor V gene haplotype (HR2) was defined by six polymorphisms and its frequency was found to be similar in normal subjects coming from Italy (0.08), India (0.1), and Somalia (0.08), indicating that it wa...

Osteoporosis is a metabolic bone disease affecting mostly elderly women. As metabolizing enzymes, the roles of few cytochromes have been studied in osteoporosis development. The aim of this study was to assess for the first time the association of CYP2E1 and CYP1A1 polymorphisms and osteoporosis in postmenopausal women. 112 postmenopausal women presenting osteoporosis and 93 age and sex matched...

background: variants in the candidate genes enos, cyp11b2 and ace have been implicated as liable biomarkers that can predict complications like hypertension and preeclampsia. studies on the impact and distribution of these variants on healthy pregnancy have not been done so far in south indian or in any of the native indian population. examining these variants could lay a strong basis in unders...