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Related Concept Videos

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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Related Experiment Video

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Infinium Assay for Large-scale SNP Genotyping Applications
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Published on: November 19, 2013

[X-sNP genotyping using the TaqMan probe technology].

Su-hua Zhang1, Li Li, Cheng-tao Li

  • 1Department of Forensic Medicine, Medical College of Soochow University, Suzhou 215123, China. zsh-daisy@163.com

Fa Yi Xue Za Zhi
|March 18, 2010
PubMed
Summary
This summary is machine-generated.

A new TaqMan probe real-time PCR method accurately detects X chromosome single nucleotide polymorphisms (X-SNPs). This sensitive and rapid technology is suitable for forensic genetics applications.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Forensic Science

Background:

  • Single nucleotide polymorphisms (SNPs) on the X chromosome are valuable genetic markers.
  • Accurate and efficient methods for X-SNP genotyping are crucial for various applications.

Purpose of the Study:

  • To develop a rapid, accurate, and economical real-time fluorescence PCR method for detecting X chromosome single nucleotide polymorphisms (X-SNPs).
  • To utilize TaqMan probe technology for enhanced specificity and sensitivity in X-SNP detection.

Main Methods:

  • Design of TaqMan probes and PCR primers targeting 13 X-SNPs.
  • Genotyping of X-SNPs using real-time fluorescence PCR amplification.
  • Validation of the developed method against DNA sequencing results.

Main Results:

  • Successful development of an allele-specific real-time fluorescence PCR assay utilizing TaqMan probes.
  • The developed method demonstrated high concordance with DNA sequencing for 13 X-SNPs.
  • All analyzed loci exhibited high polymorphism, with polymorphic information content ranging from 0.3497 to 0.3750 and heterozygosity from 0.4537 to 0.5021.
  • The loci adhered to Hardy-Weinberg equilibrium.

Conclusions:

  • The TaqMan probe-based real-time fluorescence PCR is a sensitive, simple, and rapid technology for X-SNP analysis.
  • The high polymorphism observed in the X-SNP loci suggests their potential utility in forensic genetics.
  • This method offers a robust tool for genetic studies and forensic investigations involving the X chromosome.