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1.
Medical Sciences Journal of Islamic Azad University. 2018; 28 (2): 81-91
in English, Persian | IMEMR | ID: emr-206712

ABSTRACT

Background: Anabolic steroid drugs, especially dianabol, were used as energy producer drug for growth and enhancement of muscles in athletes. Using of anabolic-androgenic steroids among athletes is extended. However, there are limited information about the adverse effects of mentioned drugs on genital system. This study aimed to evaluation of protective effects of vitamin E against damages caused by dianabol on male genital system


Materials and methods: In this experimental study, 72 male mice grouped randomly to one control group and seven experimental groups [n=9]. Mice in experimental groups 1, 5, 6 and 7 received vitamin E with dose 100 IU/kgBW. Experimental groups 5, 6 and 7 were administrated dianabol with doses 5, 10 and 20 mg/kgBW after 4 hours of vitamin E reception. Mice in experimental groups 2, 3 and 4 received just dianabol with doses 5, 10 and 20 mg/kgBW. Administration method in all groups was orally by gavage for 42 days. 24 hours after last treatment, blood samples were collected from heart and sperm characteristics were evaluated


Results: Results showed significant decrease in total antioxidant capacity [TAC] and increase in malondialdehyde [MDA] in serum; vitamin E administration remarkably improved above mentioned parameters. Also, vitamin E administration caused improvement in sperm parameters and blood testosterone level


Conclusion: This study showed that vitamin E, as inhibitor of free radical, can decrease oxidative damages caused by dianabol

2.
International Eye Science ; (12): 1023-1027, 2017.
Article in Chinese | WPRIM | ID: wpr-641241

ABSTRACT

AIM: To evaluate association between mutations in the visual system homeobox 1 (VSX1) gene and keratoconus (KCN) complicated with granular corneal dystrophy (GCD), direct sequencing was performed in an Iranian family affected by KCN and GCD in four generations.METHODS: An Iranian pedigree with keratoconus spanning four generations along with GCD was identified.Whole blood sample was used for genomic DNA extraction.The molecular analysis by using polymerase chain reaction (PCR) of the entire coding region and intron-exon boundaries of VSX1 gene was preformed to investigate the possible linkage between KCN and GCD.Subsequently, direct sequencing was used for PCR products and mutation analysis was conducted in the patients and controls.RESULTS: Mutation analysis in VSX1 gene did not detect evidence for association between KCN and GCD diseases and VSX1 gene.Our data excluded VSX1 as the disease-causing gene for KCN/GCD in this specific pedigree.CONCLUSION: Despite of no association between KCN patients with GCD and VSX1 gene variations, other probable genes involved in pathogenesis of the KCN and GCD diseases need to be investigated in the patients.

3.
Journal of Paramedical Sciences. 2016; 7 (4): 5-10
in English | IMEMR | ID: emr-187142

ABSTRACT

One of the leading causes of death in the world are cardiovascular diseases, among which coronary artery disease [CAD] is the most common one. It occurs as a result of narrowing of the arteries which supply blood to the heart due to a theroma plaque formation. This kind of heart disease can be considered as a multifactorial one as genetic and environmental factors are involved in its incidence. The already conducted studies have investigated the relationship between some of polymorphisms in different loci and CAD with the aim of on-time diagnosis of this disease, which may lead to its prevention and appropriate treatment. The aim of this study was to examine the association of tRNA Thr 15927 G: A mutation with the risk of CAD incidence to offer programs for early diagnosis and treatment of this disease in Iran. Fifty patients with CAD were included in the patient group, and fifty healthy participants were selected for the control group. 5mL of peripheral blood samples drawn from subjects in patient and control groups were collected in the tubes containing Ethylenediaminetetraacetic acid [EDTA]. After DNA extraction from blood with the employment of DNA extraction kit, its quality and quantity were measured using electrophoresis and NanoDrop devices, respectively. Then, the isolated DNA with the implementation of amplification-refractory mutation system [ARMS] and restriction fragment length polymorphism [RFLP] techniques was examined to determine and evaluate the target polymorphism in the intended locus. Sequencing method was also used to confirm the findings. To this end, 4 samples were randomly selected and sequenced.In the control group, 6 screened patients had the mutation while the others did not. Similar result was observed in the patient group. The findings of the present study reveal that there was not any significant relationship between tRNAThr 15927G: A mutation and risk of CAD incidence

4.
Scientific Journal of Kurdistan University of Medical Sciences. 2015; 20 (5): 93-101
in Persian | IMEMR | ID: emr-173472

ABSTRACT

Background and Aim: Abortion is spontaneous termination of pregnancy before the 20[th] week. Recurrent pregnancy loss [RPL], also referred to as recurrent miscarriage or habitual abortion, is historically defined as 3 consecutive pregnancy losses. There are several known risk factors associated with recurrent miscarriages, including genetic, endocrine, autoimmune, anatomical. Causes of recurrent miscarriages in 50% of the cases remain unexplained. It has been hypothesized that genetic polymorphism in estrogen receptor genes would be associated with recurrent miscarriages


Material and Materials: This study included 80 patients with a history of three or more consecutive unexplained abortions and 80 women with at least 2 live births without any miscarriage. Then we investigated estrogen receptor gene polymorphism in the participants by allele specific polymerase chain reaction [AS-PCR] method


Results: The frequencies of rs1256149 polymorphisms among the women with recurrent abortions and also the women in the control group were 80% and 62.5% respectively. There was a significant difference in the genotype frequencies between RPL and the control groups [p=0.028]


Conclusion: These findings indicated that estrogen receptor polymorphism can be regarded as a genetic marker for recurrent spontaneous abortions

5.
Environmental Health Engineering and Management Journal. 2015; 2 (1): 31-36
in English | IMEMR | ID: emr-174680

ABSTRACT

Background: Glyphosate [N-phosphonomethyl Glycine] is an organophosphorus pesticide with dangerous effects on the environment. In this study, the biodegradation of glyphosate herbicide by halophilic bacteria isolated from Qom Hoze-Soltan Lake has been investigated


Methods: After sampling and bacterial isolation, native halophilic strains grown in the presence of glyphosate at a wavelength of 660 nm and also the disappearance of the glyphosate in the plates at a wavelength of 220 nm were determined and the dominant bacteria were isolated. Biochemical, molecular [according to the 16S rRNA sequence], antibiotic, and the Minimum Inhibitory Concentration [MIC] test was performed for the dominant bacteria. Analysis of the remaining glyphosate herbicide was performed by HPLC analysis after derivation with FMOC-Cl


Results: According to the results of the biochemical, antibiotic and molecular 16S rRNA tests, the native halophilic isolates with the ability to biodegrade glyphosate were gram positive cocci very similar to Salinicoccus spp. The results of HPLC showed that Salinicoccus spp is able to biodegrade glyphosate herbicide


Conclusion: The native bacteria in Qom Hoze-soltan lake, Iran can be used for biodegradation of glyphosate herbicide

6.
Iranian Journal of Psychiatric Nursing. 2015; 2 (4): 68-79
in Persian | IMEMR | ID: emr-176062

ABSTRACT

Introduction: Entry into military service with changing environmental conditions, social relationships and lifestyle can cause psychological stress and pressure on the soldiers and may promote or create risky behaviors. Non-verbal or verbal aggressive behavior such as fighting, obscenities, hitting, threats and intimidation may increase stress exposure. This study aimed to investigate the effects of anger management education based on Health Promotion Model on reducing risky behavior of soldiers [fighting] in the Military barracks of Ardekan in1389


Methods: This clinical trial is an experimental study. Participants were the 232 soldiers who were engaged in risky behavior score higher than 60. They are randomly divided into two groups. Anger control for the experimental group on the basis of religious and scientific evidence in health promotion model was trained. Data collection tool was built by researchers. Reliability and validity of the questionnaire [demographic, risky behaviors, health promotion model structures] were carried out


Results: Statistical analysis of covariance and independent t-test showed that all structures of the model [perceived benefits, perceived barriers, perceived self-efficacy, sense of behavior, interpersonal influences, situational influences] and the amount of conflict behavior, between the two groups [case and control] is significant. [P<0.001]


Conclusion: The positive impact of teaching anger management techniques, based on religious and scientific evidence and educational model of health promotion, showed that the model is effective. Model can manage aggression and destructive emotion, aggressive behavior and attitude and feeling. Anger management techniques leading to better compatibility with environmental stress and unwanted changes to the young people

7.
Cell Journal [Yakhteh]. 2014; 16 (1): 91-94
in English | IMEMR | ID: emr-148451

ABSTRACT

Fibrodysplasia Ossificans Progressiva [FOP, MIM 135100] is a rare genetic disease that is often inherited sporadically in an autosomal dominant pattern. The disease manifests in early life with malformed great toes and, its episodic and progressive bone formation in skeletal muscle after trauma is led to extra-articular ankylosis. In this study, a 17 year-old affected girl born to a father with chemical injury due to exposure to Mustard gas during the Iran-Iraq war, and her first degree relatives were examined to find the genetic cause of the disease. The mutation c.617G>A in the Activin A receptor, type I [ACVR1] gene was found in all previously reported patients with FOP. Therefore, peripheral blood samples were taken from the patient and her first-degree relatives. DNA was extracted and PCR amplification for ACVR1 was performed. The sequencing of ACVR1 showed the existence of the heterozygous c.617G>A mutation in the patient and the lack of it in her relatives. Normal result of genetic evaluation in relatives of the patient, ruled out the possibility of the mutation being inherited from parents. Therefore, the mutation causing disease in the child, whether is a new mutation with no relation to the father's exposure to chemical gas, or in case of somatic mutation due to exposure to chemical gas, the mutant cells were created in father's germ cells and were not detectable in his blood sample


Subject(s)
Humans , Female , /genetics , Mutation/genetics
8.
The World Journal of Men's Health ; : 141-149, 2013.
Article in English | WPRIM | ID: wpr-172358

ABSTRACT

PURPOSE: The purpose of the present study was to investigate the effect of sesame oil on the reproductive parameters of diabetic male Wistar rats. MATERIALS AND METHODS: The adult male rats in a split plot design were divided into normal (n=10), normal 5% (n=5; 5% sesame oil enriched diet), diabetic (Streptozocin induced diabetes; n=9), diabetic 5% (n=9; 5% sesame oil enriched diet), and diabetic 10% (n=9; 10% sesame oil enriched diet) groups. Diet supplementation continued for 56 days. RESULTS: Sesame oil supplementation did not reduce the plasma glucose concentration of rats in the diabetic groups (p>0.05). The total spermatogonia, spermatocytes, Leydig cells/tubule, and the germ cell to Sertoli cell ratio were lower in the diabetic rats than the normal ones (p<0.05), and with the exception of spermatogonia counts, these values improved by the addition of sesame oil to the diet (p<0.05). The sperm progressive motility and viability were lower in the diabetic rats (p<0.05) and sesame oil supplementation did not improve them. Incorporation of sesame oil into the diet improved the plasma testosterone concentration of the diabetic rats in a dose-dependent manner (p<0.05). CONCLUSIONS: In summary, sesame oil supplementation improved the reproductive parameters of diabetic rats at the levels of the testicular microstructure and function, but was not effective in protecting the epididymal sperm.


Subject(s)
Adult , Animals , Male , Rats , Diabetes Mellitus , Diet , Germ Cells , Sesame Oil , Sesamum , Spermatocytes , Spermatogonia , Spermatozoa , Testis , Testosterone
9.
Zahedan Journal of Research in Medical Sciences. 2013; 15 (5): 30-34
in English | IMEMR | ID: emr-169066

ABSTRACT

Sincemelatoninhas been effectiveinsomestudiesto improveliver failureandyetits effectinreducingliver toxicityofamphotericin Bwas not evaluated,in the present studythe effects ofmelatoninandvitaminE were compared inreducingliver toxicitycaused byamphotericin Binrabbits. The study was performed on five groups of rabbits; one control group, and 4 amphotericin [1 mg/kg] receiving groups [2 to 5], group 3 received melatonin [1 mg/kg], group 4 received vitamin E [80 mg/kg], and group 5 received melatonin together with vitamin E. Alterations in enzyme activity of alanine aminotransferase, aspartate aminotransferase, alkaline phosphatase, and lactate dehydrogenase in serum and liver tissue were evaluated. Results showed that administration of amphotericin had significantly increased the activity level of liver function related enzymes. But consumption of vitamin E and melatonin prevented this increase, while the combination of vitamin E and melatonin had a more significant effect on lactate dehydrogenase. Also compared with the control group, liver tissue damage and cellular damage were significant after amphotericin consumption and these changes were decreased by melatonin and vitamin E. Melatonin and vitamin E may prevent liver damage caused by amphotericin through their antioxidant properties

10.
Zahedan Journal of Research in Medical Sciences. 2013; 15 (5): 43-46
in English | IMEMR | ID: emr-169069

ABSTRACT

Albendazole is utilized as an anthelmentic agent. One its side effect is teratogenicity. This effect apparently is related to its metabolites especially albendazole sulfoxid. The aim of present study was evaluation effect of erythromycin [as enzyme inhibitor in biotransformation] on albendazole biotransformation and consequently fetal malformation. Four groups of female pregnant wistar rats [8 rats each group] were used. First group received normal saline [as control group]. A single oral dose 30 mg/kg of albendazole was administered to rats on day 10 of gestation in group 2. Rats in group 3 received albendazole similar group 2 and erythromycin at dose 60 mg/kg. Rats in group 4 received only erythromycin on day 10 of gestation. The rats were euthanatized on day 20 of gestation. The skeletal malformation of fetus was studied by stereomicroscope after staining by Alizarin red-Alcian blue. The length and weight of fetuses were significantly decreased by albendazole but erythromycin did not prevent this effect. In group that received only erythromycin, the length and weight of fetuses was similar to control group. Erythromycin decreased albendazole effect on weight of placenta. There was an increase in resorption by erythromycin when co-administrated with albendazole. The incidence of skeletal malformations [mostly of the limbs, vertebrae and palate] decreased significantly by erythromycin when co-administrated with albendazole. Thus, erythromycin may inhibit albendazole biotransformation and decrease teratogenicity of it metabolites; but this subject needs more detailed evaluation

11.
Zahedan Journal of Research in Medical Sciences. 2013; 15 (11): 4-8
in English | IMEMR | ID: emr-169148

ABSTRACT

Hyperactivity of testosterone is one cause of infertility and its incorrect use can produces reproductive disorders. Nettle [Urtica dioica] has antiandrogenic effect and may antagonized effect of testosterone. In present study structure of testes of golden hamster was evaluated after testosterone and extract. In this experimental and animal modeling study, twenty male mature hamsters were divided to 4 groups, group 1 was control, group 2 received testosterone at dose 3 mg/kg subcutaneously, group 3 received nettle extract dose 30 mg/kg orally and group 4 received testosterone and nettle for 30 days daily. The hamsters were euthanized and testes were removed and detected macroscopic parameters [weight, height, wide and volume] and fixed with formalin. The samples were sectioned and colored with H and E. The volume, weight, length and wide of testes was at least in testosterone group and statistically was lesser than control and testosterone -nettle group [p<0.05], but did not the height epithelium of seminifer tubules, compact of spermatogenic cells and number of serotolli cells in testosterone group was lesser than control group significantly [p<0.05]. The nettle extract decreased histological changes of testes by testosterone and improved its structure

12.
IJVM-Iranian Journal of Veterinary Medicine. 2013; 7 (3): 207-211
in English | IMEMR | ID: emr-141409

ABSTRACT

Q fever is a zoonotic disease caused by Coxiella burnetii, a species of bacteria that is distributed worldwide. In cattle, Coxiella burnetii infections are generally asymptomatic but can also be associated with reproductive disorders. The aim of this study was to achieve molecular detection of Coxiella burnetii in dairy bovine milk farms using Nested PCR in Qom province, Iran. From January to February 2011 [winter] and July to September 2011[summer] a total of 100 bovine bulk milk samples were equally collected from five areas of Qom. The nested PCR assay used to screen for C. burnetii was designed from the nucleotide sequence of the com1 gene encodin a 27-kD outer membrane protein [OMP]. In this study, 14% [14 of 100] of bulk milk were positive. These results support the hypothesis of high prevalence and endemic pattern of Q fever in Qom province of Iran

13.
Iranian Journal of Veterinary Research. 2012; 67 (2): 109-117
in Persian | IMEMR | ID: emr-144344

ABSTRACT

Estuarine euryhaline teleosts as reared spotted scat will be continnously encounterd with alterations to water salinities. The aim of the present study was to evaluate osmoregulatory capacity of the spotted scat in response to different salinities. 120 fish were categorized into 4 groups of 30 fish each. The fish were transferred from the freshwater to different salinities [5, 10, 20, and30 g/L] and kept for one month. Tissue sections of the secondary lamella and gill branches were staind using hematoxyline eosin and studied by the light microscope. Transfer from freshwater to different salinities made significant increase [p<0.05] in total chloride cells of the secondary lamella. Furthermore, while chloride cells alterations have been accompanied with decrease in the chloride cell numbers of the lamella such changes made an increase in chloride cell numbers of the gill branches. It can be concluded that the mentioned species has limited osmoregulatory capacity when encountering abrupt salinity changes.


Subject(s)
Animals , Salinity , Chlorides , Gills , Fishes
14.
Archives of Iranian Medicine. 2012; 15 (11): 696-701
in English | IMEMR | ID: emr-160612

ABSTRACT

Cancer is the fifth leading cause of death worldwide. There are considerable efforts to identify naturally occurring substances for use as new drugs in cancer therapy. Some components of animal venoms have been identified that possess substantial anticancer properties. In our previous studies, the cytotoxic effects of ICD-85 [venom-derived peptides] have been reported on HL-60 and MDA-MB231 cell lines. This has prompted us to investigate the comparative cytotoxic effects of ICD-85 on the HeLa cell line and normal lamb kidney [LK] cells. Cells were exposed to various concentrations [8 x 10[4] to 5.6 x 10 microg/mI] of ICD-85 at various incubation times [24, 48 and 72 hours]. Cell viability was measured by the MTT assay. A morphological study was also carried out using an inverted microscope. Caspase-8 activity was assayed by the Caspase-8 Colorimetric Assay Kit in HeLa cells that were exposed to ICD-85 for 48 hours. Data analysis showed that ICD-85 has a dose-dependent cytotoxic effect on HeLa cells with an inhibitory concentration 50% [IC[50]] of 26.62 +/- 2.13 microg/mI at 24 hours, 27.33 +/- 2.35 microg/mI at 48 hours, and 28.13 +/- 2.52 microg/mI at 72 hours. Results also indicated that the cytotoxic effect of ICD-85, at 48 and 72 hours incubation times did not show significant alteration compared to 24 hours of exposure. Interestingly, the minimum concentration of ICD-85 which showed a cytotoxic effect on LK cells was found to be 3500-fold less than the minimum concentration that showed a cytotoxic effect on the HeLa cancer cells. While morphological analysis revealed a significant difference that included the characteristic rounding of dying cells by treatment with ICD-85 compared with untreated HeLa cells, this difference was not observed in normal cells. ICD-85 increased caspase-8 activity in HeLa cells after 48 hours of exposure. ICD-85 has a dose-dependent cytotoxic effect on HeLa cancer cells in contrast with its negligible effect on normal LK cells

15.
IJPR-Iranian Journal of Pharmaceutical Research. 2012; 11 (3): 931-938
in English | IMEMR | ID: emr-160882

ABSTRACT

Our previous studies revealed an inhibitory effect of ICD-85 [Venom derived peptides] on breast cancer cell line MDA-MB231. ICD-85 was also confirmed by in-vivo studies to suppress the breast tumor in mice. However, the exact mechanism of ICD-85 was unknown. Hence, the present study was undertaken to assess the mechanism of ICD-85 effect as an anti-proliferative agent of cancer cells. The effect of ICD-85 on proliferation of HL-60 cancer cells was determined by using the MTT assay. The morphological changes of ICD-85 treated HL-60 cells were observed under transmission electron microscope [TEM] DNA fragmentation analysis was also carried out using gel electrophoresis. ICD-85 induced the marked inhibition of HL60 cell proliferation with an IC[50]-value of 0.04 |ug/mL following 24 h of incubation. ICD-85 treated cells when compared with untreated cells, showed nuclear material condensation, endoplasmic reticulum dilation, mitochondria swelling or degradation, increased cytoplasmic vacuoles, reduction or disappearance in cytoplasmic process and decreased nuclear/cytoplasmic ratio was observed. The characteristic DNA ladder formation of ICD-85-treated cells in agarose gel electrophoresis confirmed the results obtained through the electron microscopy. The results of the present study indicated that ICD-85 inhibited the cancer cell proliferation by inducing cell apoptosis

16.
Gastroenterology and Hepatology from Bed to Bench. 2012; 5 (2): 106-111
in English | IMEMR | ID: emr-116802

ABSTRACT

We aimed to develop a multiplex PCR assay for specific detection of EPEC and EHEC pathotypes based on specific marker genes. About 2.5 million infant's morbidity in developing countries occurs by E.coli pathotypes because of diarrhea and intestinal diseases. The traditional phenotypic methods are time consuming and sometimes detection and differentiation of the pathotypes are not done easily. Multiplex PCR technology is used as a sensitive, specific and rapid molecular method for detection of various pathogens. PCR reactions were performed with primers which targeted the virulence genes selected for each category [stx[1], stx[2] genes for EHEC and bfpA for EPEC].For preparation of a positive control, the PCR products were cloned in pTZ57R/T plasmid. The same PCR reactions were done but in presence of genomes of various negative control bacteria for evaluation of test specificity. As expected, gel agarose electrophoresis of PCR products of the stx1, stx2 and bfpA, showed 329bp, 586bp and459bp bands respectively. Result of amplification using negative control genomes as template was negative. The multiplex PCR assay followed by capillary electrophoresis presented in the present paper provides a simple, reliable, and rapid procedure that in a single reaction identifies the four main pathotypes of E. coli. This assay will replace the previous molecular genetics methods used in our laboratory and work as an important supplement to the more time consuming phenotypic assays

17.
Iranian Journal of Veterinary Research. 2011; 12 (3): 256-261
in English | IMEMR | ID: emr-132682

ABSTRACT

In order to study the role of the kidney in fish osmoregulation, freshwater acclimatized juvenile spotted scat [Scatophagus argus L.] were subjected to four different salinities and observed for histomorphometric changes of the kidney at 1, 2, 10 and 15 days post transfer time points. The overall morphological changes displayed by fish kidney included significant decrease in the density of collecting tubules and glomeruli when subjected to higher salinity levels [10, 20 or 30 g/l] in comparison to proliferated, extensive, dense and muscular ones retained in the kidney of residents in freshwater and also of 5 g/l adapted animals. In conclusion, the observed histomorphological changes in the current study agree well with previously established physiological differences in the function of teleost kidney in freshwater and in the seawater

18.
Journal of Veterinary Research. 2011; 66 (3): 239-245
in Persian | IMEMR | ID: emr-117513

ABSTRACT

Due to the importance of sea cucumbers and the paucity of information about the status of Iranian populations, this study was necessary. Therefore, the biology of the reproduction system and macroscopic and microscopic examinations of the sexual glands of Holothuria leucospilota were carried out in this study. Data were obtained from monthly sampling of H. leucospilota during a one-year period on the Bustaneh Coast of the Persian gulf, Hormozgan, Iran. A total of 124 females and 108 males were collected. The gonads were found to be composed of many tubules. The gonad color of males of this species is creamy, while female gonads are pink to reddish-orange. Macroscopic and microscopic features of the gonads were used to assess maturity stages. The studied macroscopic features were gonad color, gonad weight, their length and diameter, and the number of tubules. Microscopic examinations included histological studies of hemotoxylin and eosin [H and E] stained texture slides. Based on these criteria, five stages of maturity were determined for both sexes: early growth [1], growth [2], advanced growth [3], mature [4], and post spawning [5]. The tubules were found to be longer and narrower in males than in females. The measured biometric factors of gonadal tubules developed from stage 1 to stage 4 of sexual maturity and declined in stage 5. The relationship between the number of tubules and the gonad weight was also calculated. The coefficient of a diagram was determined as 0.73 for male and 0.80 for female H. leucospilota


Subject(s)
Animals , Male , Female , Biometric Identification , Reproduction , Holothuria
19.
Yakhteh Medical Journal. 2011; 13 (2): 103-106
in English | IMEMR | ID: emr-136777

ABSTRACT

Mitochondrial DNA [mtDNA] is a useful tool for population studies, identification of humans and forensic DNA studies. The existence of several hundreds copies of mtDNA per cell permit its extraction from minute or degraded samples. In addition, the level of polymorphism in the hypervariable [HV] region is high enough to permit its use in human identity testing. However, the presence of several heteroplasmy might lead to ambiguous results. This study was an experiental study. This study evaluated heteroplasmy in the HV region of mtDNA in blood samples of 30 Iranians who belonged to ten unrelated families from three sequential generations [grandmother, mother and daughter]. There were no heteroplasmic substitutions in the HV1 region, but analysis of HV2 showed heteroplasmic substitutions in two out ten families. In the first family the grandmother showed heteroplasmy [T/C] in nucleotide positions 146 and 151, however it was not detected in the mother and daughter. In second family, a triple heteroplasmy [T/C] was detected in the daughter in nucleotide positions 146, 151 and 295, but these heteroplasmic substitutions were not obvious in the grandmother and mother. Heteroplasmy in mtDNA is not a rare phenomenon and probably exists in everyone, but a triple heteroplasmy in one family member is a novel finding. Our results demonstrate that one or two sequence differences between samples in mtDNA do not warrant exclusion. In our study, the average nucleotide difference between unrelated persons in the HV2 region was 2.8 nucleotides, whereas there was a triple heteroplasmy in one person which was not obvious in her family

20.
Journal of Medical Council of Islamic Republic of Iran. 2010; 28 (4): 369-376
in Persian | IMEMR | ID: emr-109710

ABSTRACT

Two factors alleged to cause thrombophilia in women with unexplained recurrent spontaneous abortion [RSA] are the MTHFR polymorphisms including C677T and A1298C. This case-control study was aimed to determine the association between RSA and two polymorphisms of MTHFR in Iranian patients. 30 patients with the background of two or more consecutive unexplained abortions and 10 women with at least two live births without a miscarriage who referred to Baqiyatallah Hospital and Avicenna Infertility Clinic were analyzed for MTHFR C677T and A1298C polymorphisms by the PCR-RFLP method. Results achieved from estimating the genotype of each polymorphism were analyzed by the SPSS program via the 2chi method. The Sperman method was also used to evaluate the correlation between the two polymorphisms. The data presented in this study have shown a significant correlation between MTHFR C677T and MTHFR A1298C polymorphisms. 17 women [56.6%] with recurrent spontaneous abortions and 5 women [50%] among the controls were heterozygote for MTFIFR C677T polymorphism. T allele frequency in the patient group was more than the control group [28.4% for patients and 25% for controls]. Frequency of the MTHFR A1298C polymorphism was 63.3% in patient and 50% in controls. For A1298C polymorphism, 43.3% of patients and 20% of controls were heterozygote. Furthermore, 20% of patients and 30% of controls were homozygote for this polymorphism. The prevalence of MTHFR C677T and MTHFR A1298C polymorphisms were slightly, but not significantly, higher in RSA patients compared to controls. These findings failed to support the relationship between thrombophilia polymorphisms and the increasing risk of RSA in evaluated Iranian women


Subject(s)
Humans , Female , Polymorphism, Genetic , Case-Control Studies , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length , Genotype
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