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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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A Method to Study the C924T Polymorphism of the Thromboxane A2 Receptor Gene
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Fetal microtia and FGFR2 polymorphism.

Ruilian Zhao1, Peixia Du2, Hongmei Sun2

  • 1Department of Obstetrics and Gynecology, Maternity and Child Health Care of Zaozhuang, Zaozhuang, Shandong 277100, P.R. China.

Experimental and Therapeutic Medicine
|July 2, 2019
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Summary
This summary is machine-generated.

The fibroblast growth factor receptor 2 (FGFR2) gene

Keywords:
correlationfibroblast growth factor 2 genemicrotia

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Area of Science:

  • Genetics
  • Developmental Biology
  • Medical Research

Background:

  • Congenital microtia is a birth defect affecting ear development.
  • Genetic factors are implicated in the etiology of congenital microtia.
  • Fibroblast growth factor receptor 2 (FGFR2) plays a role in embryonic development.

Purpose of the Study:

  • To investigate the association between the rs3135718 single-nucleotide polymorphism (SNP) in the FGFR2 gene and congenital microtia.
  • To determine if specific genotypes or alleles of rs3135718 are risk factors for microtia.

Main Methods:

  • A case-control study was conducted with 193 patients with congenital microtia and 150 healthy controls.
  • Quantitative polymerase chain reaction (qPCR) was used to genotype the rs3135718 site in the FGFR2 gene.
  • Statistical analysis was performed to compare genotype and allele frequencies between groups.

Main Results:

  • The rs3135718-AG genotype showed no significant association with congenital microtia.
  • The rs3135718-GG genotype and the G allele were significantly associated with an increased risk of congenital microtia.
  • The rs3135718-GG mutation was specifically linked to increased microtia risk in males, not females.
  • A significant difference in the rs3135718-G allele frequency was observed in males between the case and control groups.

Conclusions:

  • The rs3135718 polymorphism in the FGFR2 gene is associated with the incidence and risk of congenital microtia.
  • The GG genotype and G allele of rs3135718 are potential genetic risk factors for congenital microtia, particularly in males.
  • Further research is warranted to elucidate the specific mechanisms linking FGFR2 gene variants to microtia development.