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Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.0K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Oogenesis02:07

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In human women, oogenesis produces one mature egg cell or ovum for every precursor cell that enters meiosis. This process differs in two unique ways from the equivalent procedure of spermatogenesis in males. First, meiotic divisions during oogenesis are asymmetric, meaning that a large oocyte (containing most of the cytoplasm) and minor polar body are produced as a result of meiosis I, and again following meiosis II. Since only oocytes will go on to form embryos if fertilized, this unequal...
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Related Experiment Video

Updated: Aug 22, 2025

Testing Targeted Therapies in Cancer using Structural DNA Alteration Analysis and Patient-Derived Xenografts
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Genetic screening in patients with ovarian dysfunction.

Yang Zeng1, Lin Li2, Qingchun Li3

  • 1Institute of Pediatrics, Children's Hospital of Fudan University, The Institutes of Biomedical Sciences, and The State Key Laboratory of Genetic Engineering, Fudan University, Shanghai, China.

Clinical Genetics
|November 14, 2022
PubMed
Summary

Genetic factors contribute to ovarian dysfunction, a key cause of infertility. Exome sequencing identified novel gene variants, offering insights for genetic counseling and personalized treatments.

Keywords:
decreased ovarian reservegenetic screeningovarian dysfunctionpremature ovarian insufficiencywhole exome sequencing

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Area of Science:

  • Genetics
  • Reproductive Biology
  • Genomic Medicine

Background:

  • Ovarian dysfunction, encompassing premature ovarian insufficiency and diminished ovarian reserve, is a significant contributor to female infertility.
  • Genetic factors are increasingly recognized as underlying causes of ovarian dysfunction.

Purpose of the Study:

  • To identify genetic variants associated with ovarian dysfunction using exome sequencing.
  • To expand the understanding of the genetic basis of ovarian dysfunction and its impact on fertility.

Main Methods:

  • Exome sequencing was performed on six independent families with ovarian dysfunction.
  • Variant analysis focused on identifying potentially causative mutations in genes related to ovarian function.

Main Results:

  • Eight potential variants were identified in five genes: MSH4, HFM1, SYCE1, FSHR, and C14orf39.
  • Splice-site variants in SYCE1 and MSH4 were found to disrupt canonical splicing, leading to protein domain loss or premature termination.
  • Exome sequencing provided a genetic diagnosis in 5.0% (6/124) of the studied cohort.

Conclusions:

  • The identified variants expand the known mutational spectrum for ovarian dysfunction.
  • These findings offer potential biomarkers for genetic counseling and personalized therapeutic strategies.
  • Exome sequencing is a valuable tool for diagnosing the genetic basis of ovarian dysfunction.