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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Comparing Copy Number Variations and SNPs02:26

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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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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The Y chromosome is a sex chromosome found in several vertebrates and mammals, including humans. In addition to 22 pairs of autosomes, the human males have one X chromosome and one Y chromosome. In these organisms, the presence or absence of the Y chromosome determines the development of male traits.
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Multi-locus Variable-number Tandem-repeat Analysis of the Fish-pathogenic Bacterium Yersinia ruckeri by Multiplex PCR and Capillary Electrophoresis
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Recent Developments in Y-Short Tandem Repeat and Y-Single Nucleotide Polymorphism Analysis.

J M Butler1

  • 1National Institute of Standards and Technology, Gaithersburg, MD, USA.

Forensic Science Review
|August 11, 2015
PubMed
Summary

This review covers new Y-chromosome genetic markers, including short tandem repeats (STRs) and single nucleotide polymorphisms (SNPs). It details analysis methods, population data, and standardization efforts for these important forensic and genealogical markers.

Keywords:
LuminexSNaPshotSTR nomenclature issuesY-ChromosomeY-SNPY-STRforensic DNA typingmultiplex PCRstandard reference materials

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Area of Science:

  • Genetics and Genomics
  • Forensic Science
  • Human Population Studies

Background:

  • The Y-chromosome is crucial for tracing paternal lineage and has numerous genetic markers.
  • Advancements in genetic analysis necessitate updated reviews of Y-chromosome markers and methodologies.

Purpose of the Study:

  • To review novel Y-chromosome genetic markers, specifically short tandem repeats (Y-STRs) and single nucleotide polymorphisms (Y-SNPs).
  • To discuss current and emerging methods for analyzing these Y-chromosome markers.
  • To highlight resources and standardization efforts for Y-chromosome marker analysis.

Main Methods:

  • Review of published literature on Y-chromosome STR and SNP loci.
  • Description of chromosomal locations, repeat motifs, and allele ranges for over 50 Y-STRs.
  • Overview of multiplex assay technologies and commercial kits for Y-STR typing.
  • Cataloging of approximately 250 Y-SNPs with unified haplogroup nomenclature.
  • Review of Y-SNP typing technologies, including primer extension and hybridization methods.

Main Results:

  • Detailed characterization of over 50 Y-STRs, including their chromosomal positions and population data.
  • Identification and description of approximately 250 Y-SNPs with established haplogroup relationships.
  • Discussion of available commercial kits and multiplex assays for efficient Y-chromosome marker analysis.

Conclusions:

  • Significant progress has been made in identifying and analyzing Y-chromosome genetic markers.
  • Standardization of allele nomenclature and validation studies are essential for reliable Y-chromosome analysis.
  • These advancements support applications in forensics, genealogy, and population genetics.