Objectives: This study was conducted to determine the association of insertion/deletion (I/D) polymorphism of the ACE gene in hypertensive and T2DM subjects in Egyptian population. Background: The deletion (D) allele of the angiotensin-converting enzyme (ACE) gene has been studied in relation to hypertension and type 2 diabetes mellitus (T2DM) with contradictory results which might be due to ethnic and geographical variations. Methods: A total of 85 subjects participated in this study; hypertension (Group 1); type 2 diabetes mellitus (Group 2) and controls (Group 3). Written informed consent was obtained. for each subject: age, sex, diabetes duration and the drugs used, blood pressure (systolic and diastolic), and lipid profi le. Genotyping was performed by polymerase chain reaction (PCR). Results: The frequency of DD genotype was signifi cantly higher in hypertensive (60 %) and diabetic patients (68 %) compared to controls (33.3 %) (p=0.04, p=0.01 respectively). The DD genotype (vs DI and II genotype) in the hypertensive and diabetic groups is associated with increased risk of hypertension and/or diabetes. OR=3.00; 95%, Cl = 0.993-9.067; OR=4.250; 95%, Cl = 1.234-14.63 respectively). The D allele was more frequent in hypertensive (77.5 %) and diabetic patients (82 %) compared to controls (52.4 %) (p=0.004 and 0.002 respectively). The D allele (vs the I allele) is associated with increased risk of hypertension and diabetes OR=3.13, 95%Cl=1.405-6.978; OR= 4.14, 95% CI= 1.615-10.622 respectively). Conclusion: The DD genotype and the D allele are associated with hypertension and type 2 diabetes in Egyptian patients (Tab. 5, Fig. 1, Ref. 32). Full Text in free PDF www.bmj.sk.

Genetic analyses have provided evidence to suggest that Bax and Bak are the essential genes for apoptosis in mammalians cells. This study aimed to search for biomarkers in breast cancer to be used as prognostic markers for the disease. The Bak and Bax genes expressions were analyzed in 23 breast cancer patients by RT-PCR technique. SSCP technique was used to detect the mobility of the abnormal fragment in Bak exon 4. PCR for Bax promoter was digested with Tau 1 restriction enzyme to identify a single polymorphism G(-248)A. The expression of Bak gene is related to several clinical factors of breast cancer. The analysis of Bax RNA showed 4 isoforms of Bax with different distributions in the normal and tumor tissues. These isoforms were Bax α, d, δ, and ζ. Exon 4 had a normal pattern in all cases of breast cancer. There was a statistically significant difference in the frequency distribution of the G(-248)A genotypes in the breast cancer tissues with grade 3+high, T2 stage, lobular +other, and PR −ve subgroups. In this study, Bak expression seems to lead to development of breast cancer and affects the disease progression. Also, Bax d and Bax δ could be used as risk factor and biomarker for breast cancer with the distribution of G284A.

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