A Non-invasive Prenatal Diagnosis Method: Free Fetal DNA in Maternal Plasma

Prenatal diagnosis for genetic diseases nowadays is still carried out by invasive procedures such as chorionic villus sampling, amniocentesis or cordocentesis. These techniques, however, accompanied with risk of fetal losses. Non-invasive prenatal diagnosis tests based on the analysis of fetal DNA in maternal plasma have potential to be a safer alternative to invasive methods. Non-invasive prenatal diagnosis has been a long-standing research theme in prenatal medicine. The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 has opened new possibilities for noninvasive prenatal diagnosis. The measurement and detection of fetal DNA in maternal plasma and serum has led to clinical applications for the identification of fetal aneuploidies, pre-eclamptic pregnancies, noninvasive diagnosis of fetal Rhesus D genotype and some single gene disorders. The detection of fetal DNA sequences is a reality and could reduce the risk of invasive techniques for certain fetal disorders in the near future. [Archives Medical Review Journal 2013; 22(3.000): 317-334

Human Leukocyte Antigens, Structure and Functions

Major histocompatibility complex (MHC) is called Human Leukocyte Antigens (HLA) in humans. This region consists of four main groups which are the MHC Class I (HLA-I, -B, -C, -E, -F, -G), MHC Class II (HLADR, -DP, -DQ, -DO, DN), MHC Class III (C2, C4A, C4B, PF,TNF-H,I) and, MHC Class IV (SK12W, Hsp70, AIF-I IC7 B144, LTB, TNF, LTA, IkBL, BATI, MICA, MICB) antigens. Class IV region has also been referred to "inflammatory region".HLA molecules present antigens to T lymphocytes and initiate a specific immune response. Class I HLA molecules present antigens to CD8+ cytotoxic T cells while Class II Molecules present to CD4+ hepler T cells. Class III HLA molecules are not involved in antigen presentation. Class III and IV HLA molecules are primarily important in inflammation an autoimmune diseases. HLA are the most polymorphic genes of the genome . The most important field of use is the histocompatibility examination in tissue and organ transplantation Lately, the most studied subject is the association of HLA antigens with diseases. Certain HLA types are more frequent in some diseases In this review, it is given the information about structural functional features of HLA molecules and their clinical usage. Also, here is to give brief overview of HLA polymorphism and association of HLA antigens with diseases [Archives Medical Review Journal 2014; 23(3.000): 387-397

Noninvasive prenatal diagnosis experience in the Cukurova Region of Southern Turkey: detecting paternal mutations of sickle cell anemia and beta-thalassemia in cell-free fetal DNA using high-resolution melting analysis

WOS: 000326106700008PubMed ID: 23836351ObjectiveThis study used a high-resolution melting (HRM) technique to detect paternal mutations for the noninvasive prenatal diagnosis (NIPD) of -thalassemia and sickle cell anemia (HbS). We also determined the levels of cell-free fetal DNA and total cell-free DNA. MethodsWe used the HRM technique for fetal genotyping of paternal mutations in maternal plasma from 32 pregnancies at risk of -thalassemia and 57 pregnancies at risk of HbS. The DNA levels in maternal plasma were measured using real-time quantitative PCR. Multiples of the median (MoM) values were calculated in women at risk for -thalassemia or HbS. ResultsTwenty-two paternal mutations were detected in 89 pregnant women. Although we were successfully able to detect the paternal -thalassemia mutations, the mutant HbS fetuses could not be distinguished from maternal background in the early weeks of pregnancy. The detection of DYS14 in male fetuses was 100%. The MoM values of women at high risk of having HbS-affected fetuses were higher than those for the other groups. ConclusionHigh-resolution melting is a useful method for NIPD of -thalassemias by detecting paternal mutations in the maternal plasma. Cell-free fetal DNA quantification and MoM values were not informative for HbS or -thalassemias in early pregnancy. (c) 2013 John Wiley & Sons, Ltd.Cukurova University Academic Research Projects UnitCukurova UniversityThis study was supported by the Cukurova University Academic Research Projects Unit

The effects of factor V leiden, prothrombin G20210A, MTHFR C677T, MTHFR A1298C, factor XIIIA Val34Leu, factor XIIIB His95Arg and apolipoprotein E genotypes on coronary artery disease

WOS: 000314289700012Objectives: The aim of our study was to evaluate the possible roles of factor V Leiden, prothrombin G20120A mutations, factor XIIIA and B, methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C and apolipoprotein (Apo) E polymorphisms in the development of coronary artery disease (CAD). Methods: A total of 442 subjects (234 CAD and 208 non-CAD) were included in the study according to their coronary angiography. Polymerase chain reaction (PCR), real-time PCR and restriction enzyme analysis (REA) were carried out in the study. Results: Logistic regression analysis showed that when the biochemical variables and genetic risk factors were placed in a model, the most important variables were smoking, alcohol, Diabetes Mellitus (DM), factor V G1691A, MTHFR A1298C, factor XIIIA Val34Leu and XIIIB His95Arg. We showed that smoking, DM, factor V G1691A, MTHFR A1298C increased the risk of CAD 3.19, 2.27, 3.32, 1.97-fold, respectively. On the other hand, alcohol, factor XIIIA Val34Leu and XIIIB His95Arg decreased the risk of CAD 0.44, 0.46 and 0.17-fold, respectively. Apo E polymorphisms were not found important statistically in our study. Conclusions: It is concluded that presence of Leu allele at factor XIIIA Val34Leu and Arg allele at factor XIIIB His95Arg is protective against CAD. In addition, Factor V G1691A mutation, MTHFR 1298 AC genotype could have an important role in the progression of CAD.Research Foundation of Cukurova UniversityCukurova University [SBE-02YL17]We thank Dr. Ilker Unal for expert assistance in statistical analysis. This study was supported by the Research Foundation of Cukurova University (SBE-02YL17)

Effects of vitamin D on ovary in DHEA- treated PCOS rat model: A light and electron microscopic study

WOS: 000429263200008PubMed ID: 29192811Aim: The aim of this study was to investigate the effects of vitamin D treatment on ovary in experimentally designed polycystic ovary syndrome of female rats using light and electron microscopic techniques. Methods: Twenty-four female pre-pubertal rats were divided into control, DHEA and DHEA+Vit. D groups. In DHEA group, the PCOS rat model was developed by 6mg/kg/day dehydroepiandrosterone administration as subcutaneously injections. In DHEA+ Vit. D group, 6 mg/kg/day DHEA and 120ng/100g/week 1,25(OH) 2D3 was performed simultaneously. Controls were injected with vehicle alone. At the end of the 28 days, blood samples were collected and the ovarian tissues were taken for histological examinations. Results: FSH, LH levels, LH/FSH ratio, and testosterone levels showed a significant increase in DHEA group when compared with the control group. Moreover, these measurements were lower in the treatment group than the DHEA group. In DHEA group, increased number of atretic follicles and cystic follicles were seen with light microscopic analysis. Cystic follicles with attenuated granulosa cell layers and thickened theca cell layers and lipid accumulation in interstitial cells were observed by electron microscope. It is observed that atretic and cystic follicles were decreased as a result of vitamin D treatment. Conclusion: Our results indicate the curative role of vitamin D treatment on the androgen excess in PCOS rat model which causes abnormalities in ovarian morphology and functions. Vitamin D has positive effects on the hormonal and structural changes observed in PCOS, but it has been concluded that long-term use may be more beneficial.Cukurova UniversitesiCukurova University [TYL-2014-2778]This work was supported by the Cukurova Universitesi [TYL-2014-2778]