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Related Concept Videos

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Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
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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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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.
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Single Nucleotide Polymorphisms-SNPs01:05

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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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Mosaic trisomy 13: understanding origin using SNP array.

Natini Jinawath1, Regina Zambrano, Elizabeth Wohler

  • 1Institute of Genetic Medicine, Johns Hopkins Medical Institutions, Baltimore, MD 21287, USA.

Journal of Medical Genetics
|November 25, 2010
PubMed
Summary
This summary is machine-generated.

Mosaic trisomy 13, though rare, shows variable outcomes. SNP array analysis reveals maternal origin and quantifies mosaicism, aiding understanding of this condition.

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Area of Science:

  • Genetics
  • Genomics
  • Reproductive Biology

Background:

  • Trisomy 13 affects 1 in 10,000-20,000 live births, with mosaicism in 5% of cases.
  • Phenotype and outcomes of mosaic trisomy 13 are poorly understood.
  • Previous studies on trisomy 13 suggest maternal origin and reduced recombination, but mosaic cases are understudied.

Purpose of the Study:

  • To investigate the mechanisms and origins of mosaic trisomy 13 in live-born individuals.
  • To characterize the genetic basis and quantify mosaicism in complex trisomy 13 cases.
  • To explore the utility of SNP array analysis in understanding mosaic aneuploidies.

Main Methods:

  • Single-nucleotide polymorphism (SNP) array analysis.
  • Fluorescence in situ hybridisation (FISH).
  • Bioinformatics analyses.

Main Results:

  • All three mosaic trisomy 13 cases analyzed had a maternal origin for the extra chromosome 13.
  • Mosaicism percentages ranged from 30% to 50%, determined by B allele frequencies.
  • Mechanisms included meiosis I non-disjunction with trisomic rescue, uniparental disomy, meiosis II non-disjunction, and early mitotic errors.

Conclusions:

  • SNP array analysis provides genotype, copy number, parental origin, and uniparental disomy status.
  • This information is crucial for quantifying mosaicism and understanding its underlying mechanisms.
  • Findings contribute to better prediction of recurrent risks and understanding phenotypic variability in mosaic aneuploidies.