Polymorophisms in MTHF and ACE genes and the association with hypertension among Saudi population from Qassim region

Three clinically important mutations; Two of the methyl-tetrahydrofolate reductase [MTHFR] gene namely C677T, A1298C, and insertion/deletion [I/D] polymorphism of the angiotensin converting enzyme [ACE] gene are reported to be associated with various pathological conditions. This study is planned in order to evaluate the association of genetic polymorphisms related to these genes with hypertension. These polymorphisms can be utilized as biomarkers for susceptibility and severity of the disorder with a potential impact on diagnosis and management. Participants included 117 cases [78 males and 39 females] with an age mean +/- SD of 50.93 +/- 15.43 years. They were hospitalized for hypertensive complications including cardiac affection [64.9%] and renal dysfunction [17.9%] or strokes [20%]. For comparison, 169, age and sex matched; with an age mean +/- SD of 47.65 +/- 11.15 normal healthy unrelated subjects [78 males and 91 females] were taken from the same locality as controls. For all participants, DNA was extracted followed by real-time PCR amplifications for characterization of genotypes and alleles related to MTHFR C677T, A1298C and ACE I/D gene polymorphisms. Compared to controls, cases showed significantly higher frequency of the heterozygous genotypes of MTHFR AC [52.1% vs. 36.5%, p<0.05] and ACE ID [96.5% vs. 43.5%, p<0.0001]. Cases showed also significantly higher MTHFR 1298 mutant C allele carriage rate with nonsignificant higher carriage rate for the MTHFR 677 mutant T allele and ACE mutant D allele. It was also noted that 74% of cases carried at least one of the 3 studied mutant forms. Comparing case-subgroups in terms of being either positive or negative for diabetes, cardiac, renal or cerebral complications and obesity showed non-significant difference related to the studied genotypes and alleles. This work shows that genetic polymorphisms related to the methyltetrahydrofolate reductase [MTHFR] and angiotensin converting enzyme [ACE] genes are associated probably with other environmental factors as that imposed by smoking and obesity. With the risk of hypertension among Saudi subjects from Qassim region

Dose monitoring of health care workers occupationally exposed to ionizing radiation in Mansoura university hospitals

This study aims at evaluating the efficacy of radiation safety in Mansoura University Hospitals [MUHs] and to establish practical dose constraint [DC] for medical application. The study has been conducted upon health care workers [HCWs] occupationally exposed to ionizing radiation in various diagnostic and therapeutic activities in six health premises of MUHs. Four medical applications [radiotherapy, nuclear medicine, general radiology and interventional radiology] and five specialties [medical doctors, physicists, technicians, nurses and non-classified personals] were accounted. Doses were measured on a quarterly basis using thermoluniscent dosimeters [TLD-badges], while pocket dosimeters were used whenever TLD was not available. The annual doses were collected to build up a data base for years 1994-2005. The results show that TLD-badges were used in best situation in Oncology and Nuclear Medicine Dept. to cover less than one third of the exposed HCWs. The occupational doses showed a highly significant difference [p<0.0001] depending on the field of medical application. It is found that HCWs in radiotherapy were exposed to an average annual dose of 1.36 +/- 0.61mSv/y. For interventional radiology, the mean annual dose was found 2.25 +/- 2.47mSv/y unlike that of general radiology 1.07 +/- 0.65mSv/y. The largest sources of occupational exposure came from fluoroscopic radiology .equipments [1.76 +/- 0.92mS/y] followed by Cobalt-60 teletherapy machine [1.12 +/- 0.72mS/y]. The study showed that about 90% of HCWs received doses less than 2mSv/y and only 1.39% reported doses 5mSv or above. Dose constraint level can be set at 2mSv/y in premises of MUHs that may be considered achievable ceiling value referring to acceptably applied practices rather than optimized ones

Genetic analysis of rheumatic fever among Egyptian families: consanguinity pattern, segregation analysis and blood group association

To assess genetic background of Rheumatic Fever [RF] among Egyptian families and to test for association to blood group allelic phenotypes. This study was done on 30 Egyptian rheumatic families of which 10 were mutiplex; enrolled from Pediatric Cardiology Clinic, Mansoura University Hospital. Subjects included 30 probands and 1142 relatives of different degrees; they were classified clinically into 46 cases with RF, 136 subjects with recurrent Upper Respiratory Infection [URTI] and/or arthralgia and the remainders were irrelevant. Diagnosis of RF was based on Jones criteria. Pedigree analysis with stress on consanguinity, positive family history of RF and definite recurrent URTI. Nine blood group systems were analyzed for probands including; ABO, Rh, MNS, Kell, Lutheran, Lewis, Kidd, Duffy, P1 and individual secretor status. In rheumatic families consanguinity and inbreeding were higher than control [53.3%, 0.015]. Segregation analysis suggested multifactorial inheritance for RF with mean heritability [30%] whereas recurrent URTI followed recessive inheritance. Some alleles and phenotypes were of higher incidence in probands compared to control; alleles se [non-secretor], D, Jka+ and phenotypes Lu [a-b-], Le [a-b-] and Fy [a-b-] were of higher frequency, whereas alleles Se [secretor], A, B, Kp a+, Lu b+, Le b+, Fy a+, Fy b+ and phenotypes Fy [a+ b+], Sese or SeSe [secretor] were less frequent. Based on the inherited susceptibility to respiratory infection, RF is a genetic disease with multifactorial inheritance. Blood group systems on chromosome 19 could mark hot spots for further linkage and gene mapping

Assessment of the role of blood group systems and three DNA loci [ALU TPA-25, Humfes / Fps and HuMf 13A1] in paternity testing in a sample of Egyptian population

A panel of 10 genetic markers has been applied for paternity testing in 51 Egyptian families. The panel included 7 blood group system [ABO, Rh, MNSs, Duffy, Lewis, Kell, and Kidd], and 3 DNA loci [Alu RPA - 25, HUMFES / FPS, and HUMF13A1]. The trio in each family consisted of the mother, the child, and the legal or alleged father. The families were studied as 3 groups of statistical significance: The 1st 40th family group in which paternity of legal fathers was tested despite the lack of any suspicion of paternity dispute [expected low probability of disputed paternity], the 41st - 51st family group in which paternity of legal fathers was tested due to strong suspicion paternity dispute [expected higher probability of disputed paternity], and the 1st - 51st family group in which paternity of 10 known foreign men [to represent alleged father with 100% true paternity dispute] was randomly tested in the 51 families of the study. The study included determination of blood groups by the agglutination method, and analysis of DNA loci by aggarose gel electrophoresis after DNA extraction and amplification by polymerase chain reation. Exclusion of paternity was concluded from the knowledge of modes of inheritance of the study markers, and probability of paternity [inclusion of paternity] was calculated from the studied gene freqencies after gene typing of the study population. Results of the study showed that the DNA loci were better than blood group systems in exclusion and inclusion of paternity, though both failed to exclude all the alleged fathers or to give reliable values of probability of paternity. The Lewis, Kell, and Kidd blood groups were nearly of no value in paternity testing whereas the polymorphic DNA loci [HUMFES / FPS and HUMF13A1] provided the best result. Some true disputed fathers were excluded by single markers only, raising the importance of such exclusion which should be considered seriously and cautiously and cautiously. Its reliabilityy should be scrutinized, abd it may be necessary to examine more markers. It has been concluded that the study panel of 10 genetic markers was not adequate in excluding or proving paternity for all test cases, and that the polymorphic markers provide better results in paternity testing. In a certain population, paternity testing should rely upon adequate number of the most valuable genetic markers, and regulatory rules regarding reliable paternity exclusion or inclusion or inclusion parameters are mandatory, as well as strict application of quality control parameters to the concerned laboratories