[ consequences of prenatal excess androgen exposure in anatomy of the reproductive system and physiology]

Introduction: The effects of environmental exposure during critical periods of gestational life on fetal growth and development have been confirmed by a large number of studies on human and animal models. Sex hormons are among the most influential environmental factor which affect on growth and development of different organs of fetus. Among them, androgens are the most important ones because they have various sources of production and secretion. Result previous studies that exposure to androgens during pregnancy may act as a teratogenic agent and cause defects, deministrated in offspring's endocrine and neural system developments. Considering the importance of this critical period for the development of some abnormal features in adulthood, basic research and clinical prevention efforts need to be run at this stage. This review article presents evidence on the effect of excessive androgens during fetal life on embryo development and evolution, which can lead to the development of certain phenotypes / diseases in adulthood

[ effects of prenatal excess androgens exposure on the gene expression]

Introduction: Prenatal exposure to excess androgens, as environmental factors affecting the fetal epigenome, and also a potent agent for developing special phenotypes in adulthood, has been the subject of many studies during recent decades. Results of various molecular studies conducted in this area indicate that exposure to androgens, during certain periods of growth and development of the fetus, affects cellular processes, tissues and organ development leading to phenotype and behavior alterations, one of which is causing susceptibility to polycystic ovary syndrome in adulthood. Testosterone, the most important androgen, has interfering effects in metabolic and endocrine pathways, usually a result of epigenetic changes. In recognition of diverted pathways leading to the development of disease conditions and considering possible interventions at the molecular level in these directions, control of prenatal environment and conditions can be taken to account as the first and most important step in prevention of related diseases. This article reviews the studies on the epigenetic and gene expression changes of various biological pathways as a result of this exposure, using the polycystic ovarian syndrome as an appropriate model to illustrate this exposure

[Association of rs10499859 A>G and rs13246513 C>T variants of CD36 gene and metabolic syndrome: TLGS]

CD36 is a key protein involved in regulating the uptake and utilization of fatty-acids in heart and skeletal muscle. The aim of this study is to assess the association between rs10499859 A>G and rs13246513 C>T polymorphisms of CD36 gene and metabolic syndrome [MetS]. In this case-control study, 140 subjects with MetS and 187 healthy ones were randomly selected from among the Tehran Lipid and Glucose Study population. Biochemical and anthropometrical variables were measured, and polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism. Case and control groups did not differ in allele and genotype frequencies for these SNPs. Under a dominant model, A and T alleles of these SNPs were significantly associated with elevated levels of HDL-C, before age and sex adjustment [P 0.027 and 0.016 respectively]. A allele carriers had significantly increased levels of BMI compared to G allele carriers after adjustment for MetS, and under the dominant model [P=0.009]. Presence of G allele was also significantly associated with increased diastolic blood pressure [P=0.016] before adjustment for confounders, using a recessive model. The results of this study show that genetic variation of CD36 gene was associated with metabolic risk factors such as HDL-C and BMI. Although the effect of each SNP polymorphism plays a small role, it depends specifically on their interaction with environmental factors

Efficiency of BclI restriction fragment length polymorphism for detection of hemophilia a carriers in Sistan and Baluchestan Province, Southeast of Iran

Indirect genetic diagnosis using polymorphic DNA markers can detect carriers of hemophilia A. This technique is preferable in developing countries because of its simplicity and cost effectiveness compared to direct mutation analysis. In the present study, we examined usefulness of intragenic marker BclI restriction fragment length polymorphism [RFLP] at intron 18, for carrier detection. How this marker is informative was tested in 102 members of 16 hemophiliac families from Sistan and Baluchestan province, Southeast of Iran. Blood samples were obtained from 29 hemophilia A patients and 73 of their relatives, after taking informed consents. DNA was extracted using proteinase K digestion followed by DNA precipitation. Factor VIII gene polymorphism was identified by the polymerase chain reaction/RFLP which is both sensitive and economical. Our results showed that almost 69.8% of Xchromosomes had restriction site for BclI enzyme. The heterozygosity rate for BclI polymorphism in tested women was 61.4%, signifying the usefulness of this marker in carrier detection. The informative rate respecting this polymorphism was 43.7% meaning that a remarkable percent of families from the target population could be diagnosed using this marker alone. In Sistan and Baluchestan province where there is limited access to sophisticated facilities of molecular diagnosis, use of PCR-based analysis of DNA polymorphism in the BclI locus can be used to identify a remarkable percentage of the carriers and even for prenatal diagnosis. Meanwhile, it is necessary to evaluate the effectiveness of other polymorphic DNA markers to enhance the informative rate