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Journal of Assisted Reproduction and Genetics

Published in:

01-10-2013 | Genetics

The association between thrombophilic gene mutations and recurrent pregnancy loss

Authors: Ahmad Poursadegh Zonouzi, Nader Chaparzadeh, Saeid Ghorbian, Mahzad Mehrzad Sadaghiani, Laya Farzadi, Alieh Ghasemzadeh, Taiebeh Kafshdooz, Masoud Sakhinia, Ebrahim Sakhinia

Published in: Journal of Assisted Reproduction and Genetics | Issue 10/2013

Abstract

Purpose

To determine whether the Factor V (1691G/A), Factor V HR2 (4070A/G), Prothrombin (20210G/A), PAI-1 (-675 I/D, 5G/4G), ACE (intron 16 I/D), Factor VII (Gln353Arg), Factor XIII (Val34Leu), β-fibrinogen (-455G/A), Glycoprotein Ia (807C/T), tPA (intron 8 D/I) gene mutations could be risk factors for recurrent pregnancy loss (RPL).

Methods

Genotyping of thrombophilic gene mutations were carried out by amplification Refractory Mutation System-PCR (ARMS-PCR) method after DNA extraction.

Results

We found that the mutant allele frequencies of Factor V (1691G/A), Factor V HR2 (4070A/G), Prothrombin (20210G/A), PAI-1 (-675 I/D, 5G/4G), Factor XIII (Val34Leu) and β-fibrinogen (-455G/A) were more seen in the case group compared with the healthy control; However, the difference between the two group is not statistically significant (p > 0.05). Whilst the mutant allele frequencies of other studied genes were lower in the case in comparison to the fertile control women (p > 0.05).

Conclusion

Taken together, our data has shown that the prevalence of thrombophilic gene mutations was similar in women with RPL and healthy controls. Therefore, it appears that further studies on large-scale population and other genetic variants will be needed to conclusively find candidate genes for RPL unknown etiology in the future.

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Title: The association between thrombophilic gene mutations and recurrent pregnancy loss
Authors: Ahmad Poursadegh Zonouzi
Nader Chaparzadeh
Saeid Ghorbian
Mahzad Mehrzad Sadaghiani
Laya Farzadi
Alieh Ghasemzadeh
Taiebeh Kafshdooz
Masoud Sakhinia
Ebrahim Sakhinia
Publication date: 01-10-2013
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 10/2013
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-013-0071-5

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

The association between thrombophilic gene mutations and recurrent pregnancy loss

Abstract

Purpose

Methods

Results

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusion

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