common variable immunodeficiency (cvid) is an antibody deficiency syndrome that often co-occurs in families with selective iga deficiency (igad). this study was designed to investigate the frequency of dr and dq loci of hla class ii region in common variable immunodeficiency (cvid) patients. fifteen iranian patients with cvid or igad (mean age 14.6±5.4, range 4-25 years; 9 male and 6 female) an...

BACKGROUND A previous genome-wide linkage study of alcohol dependence in multiplex families found a suggestive linkage result for a region on Chromosome 1 near microsatellite markers D1S196 and D1S2878. The KIAA0040 gene has been mapped to this region (1q24 - q25). A recent genome-wide association study using SAGE (the Study of Addiction: Genetics and Environment) and COGA (Collaborative Study ...

The major histocompatibility complex (MHC) contains the most polymorphic genetic system in humans, the human leukocyte antigen (HLA) genes of the adaptive immune system. High allelic diversity in HLA is argued to be maintained by balancing selection, such as negative frequency-dependent selection or heterozygote advantage. Selective pressure against immune escape by pathogens can maintain appre...

Tests were performed of the selective neutrality of mitochondrial DNA (mtDNA) variants from geographic populations of Drosophila melanogaster in Argentina (ARG) and Central Africa (CAF). The two populations were completely reproductively compatible. The two distinct mtDNA haplotypes from the two populations were competed in replicate experimental populations on three nuclear genetic backgrounds...

BACKGROUND Several studies have demonstrated a lower apolipoprotein E4 (APOE ε4) allele frequency in African-Americans, but yet an increased age-related prevalence of AD. An algorithm for prevention clinical trials incorporating TOMM40'523 (Translocase of Outer Mitochondria Membrane) and APOE depends on accurate TOMM40'523-APOE haplotypes. METHODS We have compared the APOE and TOMM40'523 phas...

Haplotype-based methods offer a powerful approach to disease gene mapping, based on the association between causal mutations and the ancestral haplotypes on which they arose. As part of The SNP Consortium Allele Frequency Projects, we characterized haplotype patterns across 51 autosomal regions (spanning 13 megabases of the human genome) in samples from Africa, Europe, and Asia. We show that th...

Background & objectives: The researcher clarified that β/Globin gene cluster haplotypes in patients with sickle cell anemia provide useful population data as predictors of the disease severity, gene flow, and the origins of sickle cell mutation in this region. Materials and methods: A total of 150 subjects was investigated in two different groups for five polymorphism restriction site...

The present study aimed to identify the NAT2 haplotypes, linkage disequilibrium, and novel NAT2 genetic variants among Jordanian population. We isolated the genomic DNA from 68 healthy, Arab, unrelated Jordanian volunteers to amplify the protein-coding region of NAT2 gene by polymerase chain reaction (PCR). Then, the amplified PCR products were sequenced using Applied Biosystems Model (ABI3730x...

OBJECTIVE We aimed to investigate possible associations between three norepinephrine transporter gene (SLC6A2) single nucleotide polymorphisms (T182C, A3081T, and G1287A) and schizophrenia. Also, we investigated the relationships of those polymorphisms with clinical severity and characteristics of schizophrenia. METHODS Participants were 220 schizophrenia patients in the acute phase and 167 h...

The present study investigates the extent of genetic affinities and to trace their evolutionary history among the three Naga tribal groups of Manipur. Three DRD2 markers were screened among 200 individuals belonging to different Naga tribal (Rongmei=60, Inpui= 78, and Liangmai=62) groups using three sites (TaqI B, TaqID, and TaqIA) on the dopamine receptor D2 (DRD2) gene through allele and hapl...