Significant correlation of angiotensin converting enzyme and glycoprotein IIIa genes polymorphisms with unexplained recurrent pregnancy loss in north of Iran

Background: Spontaneous abortion is considered as the most complex problem during pregnancy. Thrombophilia is resumed as a cause of recurrent pregnancy loss [RPL]. Glycoprotein IIIa [GPIIIa] gene is involved in thrombosis and abortion. Angiotensin converting enzyme [ACE] converts angiotensin I to angiotensin II and is involved in thrombosis. The most common polymorphism in this gene is the insertion/deletion [I/D]

Objective: In this study, we analyzed the association between ACE I/D and GPIIIa c.98C >T polymorphisms in women with unexplained RPL from the north of Iran

Materials and Methods: Sample population consisted of 100 women with unexplained RPL and 100 controls. The ACE I/D and GPIIIa c.98C>T polymorphisms were genotyped by TETRA-ARMS PCR. The association between genotypes frequency and RPL were analyzed using ?P2P and exact fisher tests. Associated risk with double genotype combinations was also investigated by binary logistic regression

Results: There was significant association between ACE DD genotype and RPL [OR=2.04; 95% CI=0.94-4.44; p=0.036]. ACE D Allele was also significantly associated with the RPL [OR=1.59; 95% CI=1.05-2.41; p=0.013]. No significant association was observed between GPIIIa c.98C>T polymorphism and RPL

Conclusion: ACE I/D polymorphism may probably be a prognostic factor in female family members of women with the history of recurrent abortion

H1299R in coagulation Factor V and Glu429Ala in MTHFR genes in recurrent pregnancy loss in Sari, Mazandaran

Background: Recurrent pregnancy loss [RPL] is caused by different factors, including genetics and thrombophilia. Beside Factor V Leiden, another nucleotide change in a factor V [FV] gene [A4070G; His1299Arg] has been identified linking to hereditary thrombophilia. Also, two proposed MTHFR polymorphisms, C677T and A1298C [Glu429A] are linked with RPL

Objective: In this study, the effect of two factors, A4070G in FV and A1298C in MTHFR are evaluated in RPL patients from Mazandaran province, Iran

Materials and Methods: Sample population of 100 women with RPL and 100 controls with Mazandarani ethnics from northern Iran were consist. The factor V [A4070G] and MTHFR [A1298C] polymorphisms were genotyped by PCR-RFLP

Results: Molecular study showed 5 women from patients and 9 women from control group were heterozygous AG for A4070G. Frequency of "A" allele in patient and control groups was 97.5% [0.975] and 95.5% [0.955] respectively, and "G" allele frequency was 2.5% [0.025] and 4.5% [0.045] respectively. No significant association [p

Conclusion: Our finding showed that A4070G and A1298C polymorphisms cannot be considered as a cause of PRL in women from Mazandaran province, northern Iran

Frequencies of two CYP2C19 defective alleles [CYP2C19[asterisk]2, and [asterisk]3] among Iranian population in Mazandaran Province

Cytochrome P450 2C19 [CYP2C19] is a polymorphically expressed enzyme that shows marked interindividual and interethnic variation. CYP2C19[asterisk]2 and CYP2C19[asterisk]3 are the most frequent identified defective alleles in Orientals and Caucasian poor metabolizers [PM]. The aim of this study was to investigate the frequencies of CYP2C19[asterisk]1, CYP2C19[asterisk]2 and CYP2C19[asterisk]3 alleles and CYP2C19 genotypes among Mazandarani ethnic group among Iranian Population. The study was conducted on 103 unrelated healthy volunteers. DNA was extracted from leucocytes and analyzed by the PCR-RFLP protocol. The PCR product was digested with restriction enzymes [SmaI and BamH1] and then separated electrophoretically using polyacrylamide gel. Of the tested alleles, CYP2C19[asterisk]1, and CYP2C19[asterisk]2, but not CYP2C19[asterisk]3, were detected. The frequencies for CYP2C19 alleles [asterisk]1, [asterisk]2, and [asterisk]3 were 91%, 9.0%, and 0.0%, respectively. CYP2C19 genotypes [asterisk]1/[asterisk]1, [asterisk]1/[asterisk]2, [asterisk]1/[asterisk]3, [asterisk]2/[asterisk]2, [asterisk]2/[asterisk]3 and [asterisk]3/[asterisk]3 frequencies were 84%, 14%, 0.0%, 2.0%, and 0.0%, respectively. The result of the present study shows that the two inactive alleles of CYP2C19 accounted for 9.0% of CYP2C19 alleles in our sample versus 8.8 - 40.1% reported in other populations. The frequency of alleles was significant. Differences between our sample and African and Eastern Asian populations

[Frequency of beta-globin mutations in beta-thalassemia patients from east of Mazandaran]

Beta-thalassemia is the most common inherited disorder in the world, especially in Iran. According to Iranian thalassemia society registry, 18616 thalassemia patients now living in Iran, which Mazandaran and Fars provinces have the most patients. Previous reports have shown that the frequency of b-thalassemia carriers is more than 10% in Mazandaran province. Although b-thalassemia is very heterogenous in the molecular level, but in each population, 5 to 10 mutations are more common. In this research common mutation in eastern area of Mazadaran province was investigated. 5 to 10 ml peripheral blood samples were collected from volunteer patients who were referred to Boali Sina Hospital in Sari. DNA was extracted from blood, then 20 different mutations were screened and detected using two different methods, ARMS-PCR and Reverse-Dot Blot in Thalassemia Research Center in Sari and Amir Kola Thalassemia Center. From 240 chromosomes investigated in 120 b-thalassemia patients in total, 96.25% mutations were identified. 13 different mutations were identified from 231 chromosomes. Among different mutations investigated, IVSII-1G>A was detected as the most common with frequency of 68/3%, which was homozygous in 64 individuals [53/3%] and compound heterozygous with other mutations in 34 individuals [28/3%] respectively. Mutations C8[-AA], codon22[G>A]/ FSC 22/23/24[-7bp], codon 30[G>A], and IVSII-1G>A were identified in 83% of chromosomes which were studied [200 chromosomes from 240]. Mutation IVSII-1G>A is the most common mutation in northern provinces [Gilan, mazandaran, Golestan] in recent study. Also, comparison of these results with the similar finding from other provinces showed that the distributions of mutations in the northern area are different with northwest, south or southeast of the country