Sentences with phrase «human gene polymorphisms»

Not exact matches

The classic case of polymorphism is the gene for the different blood groups in humans.

With the completion of the first phase of the Human Genome Project in 2000, and the advent of sequencing technologies that can detect gene variations such as single nucleotide polymorphisms (SNPs), for the first time scientists have the tools in hand to find the key immune genes and genetic networks that play roles in vaccine response.

A functional polymorphism in the promoter region of the human serotonin transporter gene (SLC6A4) has been associated with several dimensions of neuroticism and psychopathology, especially anxiety traits, but the predictive value of this genotype against these complex behaviors has been inconsistent.

A scan for human - specific relaxation of negative selection reveals unexpected polymorphism in proteasome genes.

A scan for human - specific relaxation of negative selection reveals unexpected polymorphism in proteasome genes Somel, M., M. A. W. Sayres, G. Jordan, E. Huerta - Sanchez et al. 2013.

Do combinatorial human mutations / polymorphisms in cardiac developmental genes cause predisposition to disease?

Many million different users consult these databases each year, seeking information on anything from DNA sequences, protein structures, gene expression profiles, human genetic polymorphism or even comparative analyses of entire genomes.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.

Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease - associated / functional polymorphHuman Gene Mutation Database; published mutations causing or associated with human inherited disease; disease - associated / functional polymorphhuman inherited disease; disease - associated / functional polymorphisms.

NCBI provides Gene, Online Mendelian Inheritance in Man, the Molecular Modeling Database (3D protein structures), dbSNP (a database of single - nucleotide polymorphisms), the Reference Sequence Collection, a map of the human genome, and a taxonomy browser, and coordinates with the National Cancer Institute to provide the Cancer Genome Anatomy Project.

Such environments may be more similar to the environments where much of human genetic evolution took place; indeed, they may be adaptively relevant environments [AREs; [13]-RSB- for the evolution of dopamine gene polymorphisms that have been primarily investigated in industrialized settings.

Although the newest edition of the authoritative textbook, Vitamin D, claims that in humans calcidiol binds with equal affinity to the DBP whether it is derived from vitamin D2 or vitamin D3, 37 the citation for this statement is the author's own PhD thesis, in which he reported results obtained from testing the DBP of a mere two people.48 Since the gene for the DBP is one of the most polymorphic known (meaning it exists in many forms), existing in three common alleles and 124 known rarer alleles (alleles are specific forms of the same gene), each allele itself having many polymorphisms, 37 a sample size of two is rather unconvincing.

The human DAO gene spans ≈ 10 kbp and is located on chromosome 7q35 (27) Various single - nucleotide polymorphisms (SNPs) in the DAO gene have been shown to be associated with inflammatory and neoplastic gastrointestinal diseases, such as food allergy (44), gluten - sensitive enteropathy, Crohn disease, ulcerative colitis, and colon adenoma (45 — 47).

The study suggests that oxytocin receptor gene polymorphisms have an impact on proximity to unfamiliar humans and on how friendly the dogs were toward the human.

Adults who had been categorized as behaviorally inhibited at the age of 2 years exhibited a higher amygdala activation in response to unknown vs familiar faces16 compared with adults who were uninhibited as children, consistent with the notion that novel or ambiguous environmental stimuli of potential biological relevance activate the amygdala.17 Turning to genes that can influence the neurobiological bases of the processing of emotions, 2 common alleles, the short (S) and the long (L), in a variable repeat sequence of the serotonin transporter (5 - HTT) promoter polymorphism (5 - HTTLPR) on human chromosome 17q11 have been differently associated with greater amygdala activity in response to angry or fearful faces18 in healthy adults.

The human serotonin transporter gene linked polymorphism (5 - HTTLPR) shows ten novel allelic variants