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Multiple Allele Traits01:49

Multiple Allele Traits

The Concept of Multiple Allelism
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Allosteric Proteins-ATCase01:19

Allosteric Proteins-ATCase

Binding sites linkages can regulate a protein's function.  For example, enzyme activity is often regulated through a feedback mechanism where the end product of the biochemical process serves as an inhibitor.
Aspartate transcarbamoylase (ATCase) is a cytosolic enzyme that catalyzes the condensation of L-aspartate and carbamoyl phosphate to  N-carbamoyl-L-aspartate. This reaction is the first step in pyrimidine biosynthesis. UTP and CTP, the end products of the pyrimidine synthesis pathway,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
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Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
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AK and ADA polymorphisms in South Sardinia.

R Floris, G E Mameli, P Porcella

    Human Heredity
    |January 1, 1985
    PubMed
    Summary

    Genetic analysis of South Sardinia

    Area of Science:

    • Population genetics
    • Biochemical genetics

    Background:

    • Enzymes like adenylate kinase (AK) and adenosine deaminase (ADA) are crucial in cellular metabolism.
    • Genetic variations in these enzymes can indicate population-specific adaptations and histories.

    Purpose of the Study:

    • To determine the gene frequencies of adenylate kinase (AK) and adenosine deaminase (ADA) in the South Sardinia population.
    • To compare these frequencies with other Italian populations for insights into genetic diversity.

    Main Methods:

    • Analysis of enzyme gene polymorphisms in a South Sardinia population sample.
    • Calculation of allele frequencies for AK and ADA genes.

    Main Results:

    • The gene frequency for adenylate kinase 1 (AK1) was found to be 0.975.

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  • The gene frequency for adenosine deaminase 1 (ADA1) was determined to be 0.933.
  • Conclusions:

    • The study provides baseline genetic data for AK and ADA in South Sardinia.
    • Comparison with other Italian populations may reveal regional genetic patterns or historical influences.