The CCR5-Delta32 deletion obliterates the CCR5 chemokine and the human immunodeficiency virus (HIV)-1 coreceptor on lymphoid cells, leading to strong resistance against HIV-1 infection and AIDS. A genotype survey of 4,166 individuals revealed a cline of CCR5-Delta32 allele frequencies of 0%-14% across Eurasia, whereas the variant is absent among native African, American Indian, and East Asian e...

The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two polymerase chain reaction protocols to study the frequency of this mutation in a series of 192 CF patients, we found the mutation on 72% of affect...

Schizophrenia, a severe psychiatric condition, is characterized by disturbances of cognition, emotion, and social functioning. The disease affects almost 1% of world population. Recent studies evaluating the role of catechol-O-methyltransferase enzyme (COMT) polymorphisms in the pathogenesis of schizophrenia have resulted in ambiguous findings. The current study examined the association of schi...

Advanced intercross populations, in which multiple inbred strains are mated at random for many generations, have the advantage of greater precision of genetic mapping because of the accumulation of recombination events across the multiple generations. Related designs include heterogeneous stock and the diversity outcross population. In this article, I derive the two-locus haplotype probabilitie...

Serum C2 activity was measured in 135 individuals drawn from a panel of 418 tissue-typed blood donors. The study group included all donors with HLA antigens A10 and B18. Heterozygote C2 deficiency (C2Dhet) was defined by reference to the range of C2 activity in previously studied obligate heterozygotes. Five donors were C2Dhet. Family studies confirmed that C2Dhet was associated in all instance...

The definition of haplotype blocks of single-nucleotide polymorphisms (SNPs) has been proposed so that the haplotypes can be used as markers in association studies and to efficiently describe human genetic variation. The International Haplotype Map (HapMap) project to construct a comprehensive catalog of haplotypic variation in humans is underway. However, a number of factors have already been ...

Maternal transmission ensures the joint and simultaneous presence in populations of individuals with certain variants bacterial symbiont host mitochondrial DNA. Such “quasi-linkage” cytoplasmic genomes among insects other arthropods is widespread. The acts as a “driver” mitochondria obvious biological consequence spread “linked” haplotype population, which itself does not have increased selecti...

Coronary artery disease (CAD) including myocardial infarction (MI) as its complication, is one of the most common heart diseases worldwide and also in Iran, with extremely elevated mortality. CAD is a multifactorial disorder. Twin and family studies at different loci have demonstrated that genetic factors have an important role in the progression of CAD. Many studies have reported a significant...

objective(s):organic anion transporter polypeptide 1b1 (oatp1b1) encoded by solute carrier organic transporter 1b1 (slco1b1) gene; a transporter involved in the uptake of drugs and endogenous compounds is present in hepatocyte sinusoidal membrane. aim of this study was to investigate the frequencies of functionally significant snps (388a>g and 521t>c) and their haplotypes in 6 ethnic groups of ...