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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
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The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
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Updated: Dec 31, 2025

A Method for Screening and Validation of Resistant Mutations Against Kinase Inhibitors
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Jak 2 Mutation In Recurrent Foetal Loss.

Romana Irshad1, Umer Farooq2, Zeeshan Haroon2

  • 1Department of Pathology, Ayub Medical College, Abbottabad, Pakistan.

Journal of Ayub Medical College, Abbottabad : JAMC
|January 15, 2020
PubMed
Summary

JAK2 V617F mutation is linked to recurrent fetal loss (RFL). Testing for this mutation may help identify risks and manage RFL in pregnant individuals.

Keywords:
JAK 2 mutation; JAK 2; AbortionRecurrent Fetal Loss

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Area of Science:

  • Hematology
  • Reproductive Medicine
  • Genetics

Background:

  • Recurrent fetal loss (RFL) affects approximately 1% of pregnancies.
  • JAK2 V617F mutation is an identified risk factor for pregnancy complications and fetal loss.
  • This study investigates the association between JAK2 mutation and RFL.

Purpose of the Study:

  • To assess the role of JAK2 V617F mutation in recurrent fetal loss.
  • To determine if JAK2 mutation is an independent risk factor for RFL.

Main Methods:

  • A case-control study was conducted with 216 RFL cases and 216 controls.
  • DNA analysis was performed using a kit method.
  • Data was analyzed using SPSS, calculating the odds ratio for JAK2 V617F mutation association with RFL.

Main Results:

  • The prevalence of JAK2 mutation in RFL cases was 1.38%.
  • One control subject tested positive for JAK2 mutation.
  • The odds ratio for JAK2 mutation in cases versus controls was 3.028 (p=0.623).

Conclusions:

  • JAK2-positive females exhibit a 3.03-fold increased risk of RFL compared to JAK2-negative females.
  • JAK2 mutation testing could be a valuable addition to the RFL diagnostic workup.
  • Early identification and management of RFL may be improved through JAK2 mutation screening.