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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,...
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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 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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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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PRNP haplotype distribution in Moroccan goats.

C Serrano1, M Hammouchi, A Benomar

  • 1Laboratorio de Genética Bioquímica, Facultad de Veterinaria, Universidad de Zaragoza, Zaragoza 50013, Spain.

Animal Genetics
|April 29, 2009
PubMed
Summary

Goat prion protein gene (PRNP) analysis revealed new genetic variants and high frequencies of resistant alleles, offering potential natural protection against scrapie. Moroccan goat populations show genetic similarities to other Mediterranean groups.

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Area of Science:

  • Animal Genetics
  • Veterinary Science
  • Prion Diseases

Background:

  • Scrapie susceptibility in small ruminants is linked to prion protein gene (PRNP) variations.
  • Understanding PRNP polymorphisms is crucial for managing prion diseases in goat populations.

Purpose of the Study:

  • To analyze PRNP gene polymorphisms in two Moroccan goat populations (D'man and Chaouni).
  • To identify novel allelic variants and assess the frequency of known polymorphisms.
  • To compare PRNP haplotype distribution with other goat populations.

Main Methods:

  • Genotyping of 137 goats from D'man and Chaouni breeds.
  • Analysis of PRNP gene sequences to identify amino acid and silent polymorphisms.
  • Haplotype and genotype frequency calculations and statistical comparisons.

Main Results:

  • Seven known amino acid polymorphisms and three silent mutations were identified.
  • Three new allelic variants (101R, 139S, 145D) were discovered.
  • The resistant allele 154H was found at a high frequency, suggesting genetic protection.
  • Significant differences in haplotype and genotype distributions were observed between the two populations.
  • Moroccan goat PRNP haplotype distribution aligns with Southern Italian and Greek populations.

Conclusions:

  • The study identified novel PRNP variants in Moroccan goats, contributing to the understanding of goat prion genetics.
  • The high prevalence of the 154H allele indicates a potential for genetic resistance to scrapie in these populations.
  • PRNP genetic profiles of Moroccan goats are similar to those in other Mediterranean regions.