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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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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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Modeling Ascending Vaginal Infection, Preterm Birth, and Neonatal Morbidity in Mice
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Modeling Ascending Vaginal Infection, Preterm Birth, and Neonatal Morbidity in Mice

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Structural and genomic variation in preterm birth.

Alper Uzun1,2, Yavuz Sahin3, Jessica S Schuster1

  • 1Department of Pediatrics, Women & Infants Hospital of Rhode Island, Providence, Rhode Island.

Pediatric Research
|July 29, 2016
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Summary
This summary is machine-generated.

Runs of homozygosity (ROH) were analyzed in women experiencing preterm birth. Specific genomic regions with increased ROH blocks overlapped genes linked to preterm birth risk.

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Area of Science:

  • Genetics and genomics
  • Reproductive health
  • Human evolution

Background:

  • Runs of homozygosity (ROH) are consecutive homozygous genotypes potentially arising from inbreeding.
  • ROH can influence the expression of recessive genetic traits.

Purpose of the Study:

  • To investigate the association between ROH and spontaneous preterm birth.
  • To identify specific genomic regions and genes associated with preterm birth through ROH analysis.

Main Methods:

  • A case-control study compared ROH in women delivering preterm versus at term.
  • Genome-wide mapping of ROH segments was performed.
  • Gene sets associated with preterm birth risk were examined for overlap with ROH segments.

Main Results:

  • No overall increased burden of ROH or copy number variations was found in mothers delivering preterm.
  • 424 genome-wide 50kb segments showed significant differences in ROH abundance between preterm and term birth groups (P < 0.05).
  • These regions contained 199 known genes, including preterm birth-associated genes (e.g., CXCR4, MYLK, PAK1) and evolutionarily linked genes (e.g., PPP3CB, C6orf57).

Conclusions:

  • While no significant overall ROH burden was detected, specific genomic regions with increased ROH blocks were identified in women delivering preterm.
  • These regions significantly overlap with genes known to be involved in the etiology of preterm birth.