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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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%...
Karyotyping01:17

Karyotyping

Overview
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
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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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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[Application of SNP array method in prenatal diagnosis].

V Becvárová1, M Hynek, M Putzová

  • 1Gennet, Centrum lékarské genetiky a reprodukcní mediciny, Praha. vera.becvarova@gennet.cz

Ceska Gynekologie
|October 27, 2011
PubMed
Summary

SNP array analysis is a valuable tool for prenatal diagnosis, detecting submicroscopic genetic alterations in fetuses. This method identified copy number variations in 27% of cases, with 15% showing clinically relevant findings.

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Area of Science:

  • Medical Genetics
  • Reproductive Medicine
  • Genomics

Background:

  • Submicroscopic chromosomal alterations can cause fetal anomalies.
  • Single Nucleotide Polymorphism (SNP) array technology detects these alterations.
  • Prenatal diagnosis benefits from advanced molecular techniques.

Purpose of the Study:

  • To describe the SNP array method for prenatal diagnosis.
  • To evaluate the clinical utility of SNP array in detecting fetal genetic abnormalities.
  • To present a 10-month experience with SNP array implementation.

Main Methods:

  • Prospective study involving 110 fetal DNA samples (amniotic fluid, chorionic villi, cord blood, miscarriage).
  • SNP array analysis using Illumina InfiniumHD HumanCytoSNP-12 chip.
  • Data analyzed with Illumina KaryoStudio and GenomeStudio software.

Main Results:

  • Successful SNP array analysis in 108 fetuses (98.2% success rate).
  • Copy number variations (CNVs) detected in 27% (29/108) of samples.
  • Clinically relevant CNVs found in 15% (16/108) of fetuses with abnormal ultrasounds.

Conclusions:

  • SNP array analysis is a relevant and useful technique in prenatal diagnosis.
  • It effectively identifies submicroscopic chromosomal imbalances.
  • The method aids in clarifying genetic causes of fetal anomalies.