Early detection of fetal gender from maternal blood using polymerase chain reaction

Molecular analysis of serum and plasma DNA during human pregnancy has led to the discovery that maternal blood contains fetal DNA. This valuable source of fetal DNA opens up new possibilities for noninvasive detection of fetal sex or prenatal diagnosis of various sex linked diseases. DNA was extracted from each serum and plasma sample of 25 cases of normal pregnancy, ranging from 10-16 weeks gestation to detect the Y chromosome specific sequences DYS14 in maternal blood, polymerase chain reaction [PCR] were carried out for each DNA extract. The result revealed that 13 out of 25 pregnant women had a Y chromosome specific sequence in their serum samples and 11 of them had Y chromosome specific sequence in their plasma, when doing pelvic U/S at 21 weeks gestation, all 13 cases were diagnosed having male fetus and this was confirmed after delivery

Association between polymorphisms within tumor necrosis factor genes and the development of bronchial asthma among Egyptian children

Tumor necrosis factor [TNF] is a proinflammatory cytokine that is eminently important in the pathogenesis of bronchial asthma. Bronchial asthma is a frequent respiratory disease characterized by variable airflow obstruction, inflammation of the airways, and bronchial hyper-responsiveness [BHR]. In an effort to find out the polymorphism[s] in genes whose variant[s] have been implicated in asthma phenotypes, we examined the genetic effects of TNF [TNFA and TNFB] polymorphisms on the Egyptian asthmatic children. In this study, skin prick test [SPT], total IgE level, pulmonary functions including FVC, PEF, FEV[1] and FEF[25-75], and bronchial asthma hyper-responsiveness [BHR], were investigated. Sixty asthmatic subjects, as defined by standard MRC respiratory questionnaire, plus 40 healthy controls were genotyped for two common single-nucleotide polymorphisms [SNP] using enzymatic digestion of polymerase chain reaction [PCR]. Asthma was significantly more common in subjects with TNFA-1031C>T [P= 0.007]. Although the SNP containing TNFB+252A>G polymorphism might seem to be excluded in our sample as a cause of the disease [P= 0.6], it was in a very strong linkage disequilibrium with TNFA-1031C>T [P= 0.000002]. All the TNFA-1031C>T genotypes were in a strong association with the severity of the asthma. Incidentally, the LT alpha Ncol-AA [80%] was the most predominant genotype with the severe form. However, someone might predict the severity of asthma and consequently the phenotype of an asthmatic individual by knowing the polymorphism of either the TNFA-1031C>T or even the LT alpha Ncol. These findings may have implications for future early intervention studies by helping to identify infants at increased risk for childhood asthma

Polymorphisms of TAP1/LMP7 loci in Egyptian patients with vitiligo

Vitiligo is a very common, often heritable acquired disorder characterized by well-circumscribed milky white cutaneous macules devoid of identifiable melanocytes. Vitiligo appears to be more commonly observed in parts of the body exposed to the sun and in darker skin types and may develop at any age. Our study contained 47 unrelated Egyptian young-aged vitiligo patients [age range 2-18 y] and 14 healthy volunteers of matched age range. All patients experienced active vitiligo lesions with no signs of other autoimmune disorders. To genotype the TAP1 [C>T intron 7] and LMP7 [G>T intron 6], we amplified the genomic DMA using polymerase chain reaction [PCR] using genomic DNA followed by enzymatic digestion. Our results showed no significant difference between TAP1 C>T [intron 7] and LMP7 G>T [intron 6] alleles and healthy controls [p= 0.3 or 0.5, respectively]. Even so, the odd ratios [ORs] for the genotypes of the TAP1 [C>T] were 1.78 [0.4 to 7.0], 0.8 [0.5 to 1.2], and 1.19 [0.2 to 4.9] for the TAP1-CC, CT, TT-genotypes, respectively. The ORs of LMP7 [intron G>T] genotypes were 1.4 [0.3 to 6.0], 0.8 [0.5 to 1.3], 1.19 [0.3 to 3.6] for GG, GT, and TT, respectively. However, a major contribution of both TAP1 and LMP7 polymorphisms to vitiligo susceptibility cannot be excluded. Further studies of other alleles within the TAP and LMP gene regions in Egyptian patients is recommended to demonstrate a possible role for MHC class I antigen processing and/or presentation pathway in the antimelanocyte autoimmune response in vitiligo pathogenesis

Interferon [INF] alpha activation of human blood mononuclear cells for nitric oxide synthase 2 [NOS2] expression in vivo: for possible antihepatitis C effect

Chronic hepatitis C is a major health problem worldwide, now an increase by 5 of the mortality by primary liver cancer in comparison to the mortality observed 20 years ago. An exponential increase in mortality is forthcoming in the next 20 years if patients are not screened and treated because of the fatal risk due to cirrhosis complications: liver cancer, digestive hemorrhage and hepatic insufficiency, then the number of liver related deaths will soon double and the need for liver transplantation may increase to five times that seen today. Only interferon alpha has a proven efficacy in the treatment of acute and chronic hepatitis C with advantage of long duration regimen in comparison to short treatment. To this aim, we used a reverse transcriptase PCR to quantitate induced mononuclear nitric oxide synthase after INF alpha for possible relationship to antihepatitis C virus and in relation to response to interferon alpha therapy. We studied 40 patients with chronic hepatitis C treated by INF, and 20 healthy controls, nitric oxide synthase mRNA was reverse transcribed to cDNA, which then amplified by PCR. Quantitation is done by Gel Documentation system and by real time PCR [5700]. Nitric oxide synthase mRNA were significantly increased in blood cells from patients with chronic hepatitis C patients after interferon therapy compared to controls and was higher in the best responder to interferon and lower in non responder. The INF alpha treatment of patients with hepatitis C was associated with significant decrease in the levels of serum alanine aminotransferase, Since NO has reported to have antiviral activity for a variety of viruses, So NO production may be related to the antiviral action of INF alpha in hepatitis C patients. Possible relationship of induced NOS2 after interferon therapy to the anti hepatitis C effect.