title: The association between thrombophilic gene mutations and recurrent pregnancy loss.
abstract: OBJECTIVE
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Cellular and Molecular Biology, Faculty of Science, Azarbaijan Shahid Madani University, Tabriz, Iran.
authors.forename: Ahmad
authors.initials: A
authors.lastname: Poursadegh Zonouzi
authors.forename: Nader
authors.initials: N
authors.lastname: Chaparzadeh
authors.forename: Saeid
authors.initials: S
authors.lastname: Ghorbian
authors.forename: Mahzad Mehrzad
authors.initials: MM
authors.lastname: Sadaghiani
authors.forename: Laya
authors.initials: L
authors.lastname: Farzadi
authors.forename: Alieh
authors.initials: A
authors.lastname: Ghasemzadeh
authors.forename: Taiebeh
authors.initials: T
authors.lastname: Kafshdooz
authors.forename: Masoud
authors.initials: M
authors.lastname: Sakhinia
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Sakhinia
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D005165:Factor V / Q000235:genetics; D005167:Factor VII / Q000235:genetics; D005169:Factor VIII / Q000235:genetics; D005260:Female; D005340:Fibrinogen / Q000235:genetics; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D039421:Integrin alpha2 / Q000235:genetics; D009154:Mutation; D007703:Peptidyl-Dipeptidase A / Q000235:genetics; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D011247:Pregnancy; D011516:Prothrombin / Q000235:genetics; D012307:Risk Factors; D019851:Thrombophilia / Q000235:genetics*; D055815:Young Adult
chemical_list: C115499:BBeta fibrinogen; D039421:Integrin alpha2; D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; D005165:Factor V; D005167:Factor VII; D011516:Prothrombin; D005169:Factor VIII; D005340:Fibrinogen; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A