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Increase of JAK2 D620K variant and reduction of JAK2 V617F variant and associated lack of D661Y & Y640F variants in STAT3 gene in women with miscarriage

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Year: 2016
COI code: IPMCMED01_077
Paper Language: English

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Authors Increase of JAK2 D620K variant and reduction of JAK2 V617F variant and associated lack of D661Y & Y640F variants in STAT3 gene in women with miscarriage

Parisa Azimi - Medical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Ashkezar, Yazd, Iran
Faramarz Vejdandoust - Medical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Ashkezar, Yazd, Iran
Hanieh Noferesti - Medical Biotechnology Research Center, Ashkezar Branch, Islamic Azad University, Ashkezar, Yazd, Iran
  Vahdie Salimi - Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology(NIGEB),Tehran, Iran

Abstract:

Objectives:Recurrent miscarriage (RM) is the occurrence of repeated pregnancies that end in miscarriage of the fetus before 20 weeks of gestation. Spontaneous abortion occurs in 15-20% of clinically recognized gestations. Considering the significant proliferative functions of JAK2 and STAT3roles in signal transduction and transcription activation, The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells and The STAT3 gene provide instructions for making proteins that are part of essential chemical signaling pathways within cells. In the immune system, the STAT3 protein transmits signals for the maturation of immune system cells. we decided to develop diagnostic polymerase chain reaction (PCR)-based assay to investigate the correlations between miscarriage in Iranian women and JAK2 V617F/C618W/D620K, STAT3 Y640F /D661Y/T632I/S636F/V637M variants.Methods:DNA was extracted from blood samples of 24 unrelated Iranian women with three or more unexplained pregnancy losses occurring in the first trimester as well as Forty eight healthy subjects as control group. Genomic DNA was used to detect somatic mutations in JAK2 and STAT3 genes. The exon14, 3´-UTR region of JAK2 for variants V617Fand exon 21 and 3´-UTR region of STAT3 for variants Y640F/D661Y were amplified by PCR. The PCR products were detected by capillary electrophoresis (CE) and subsequently extracted for sequencing Results: JAK2 V617F mutation was identified in 6 (28.4%) of 48control. All variants were confirmed by sequencing. Sensitivity studies showed JAK2 V617F (P < 0.05) was associated with decrease IRM (idiopathic recurrent miscarriage) risk in Iranian women and STAT3 Y640F (P > 0.05) and D661Y (P > 0.05) variants were not associated with RM.Conclusions:Our phenotype-genotypic association analysis indicated that there was insufficient evidence to demonstrate an association betweenJAK2 D620K, V617F variants and the risk of RM. D620K variation increase RM risk But V617Fvariation decreases RM risk in patients with three or more miscarriages. Our analysis indicates no association between STAT3 D661Y& Y640F variants and recurrent miscarriage. Overall our PCR based assay facilitates fora rapid, accurate screening for JAK2 V617F and STAT3 Y640F and D661Y variations in recurrent miscarriage, hence reducing labor and improving turnaround time.

Keywords:

JAK2,V617F,STAT3,Y640F,D661Y,Miscarriage A, mir-10a, RT-qPCR

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COI code: IPMCMED01_077

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Azimi, Parisa; Faramarz Vejdandoust; Hanieh Noferesti & Vahdie Salimi, 2016, Increase of JAK2 D620K variant and reduction of JAK2 V617F variant and associated lack of D661Y & Y640F variants in STAT3 gene in women with miscarriage, First Personal Medical Congress, تهران, دانشگاه علوم پزشكي ايران - پژوهشكده ملي مهندسي ژنتيك و زيست فناوري ايران، مركز همكاري هاي فناوري و نوآوري هاي رياست جمهوري, https://www.civilica.com/Paper-IPMCMED01-IPMCMED01_077.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Azimi, Parisa; Faramarz Vejdandoust; Hanieh Noferesti & Vahdie Salimi, 2016)
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