Genetic markers and anthropometry in the populations of the Egyptian oases of El-Kharga and El-Dakhla.
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Blood specimens were obtained from 281 inhabitants of an Eti-Turk village with a population of about 500. Starch gel (pH 8.6) and agar gel (pH 6.45) electrophoresis were performed in 279 of the specimens. Hb S was present in 105 partially interrelated persons (37.36%), three of whom had sickle-cell anaemia. Hb E was detected in 5 persons (1.79%), one of whom was a double heterozygote for Hb S and Hb E. One Hb S+alpha-thalassaemia and 7 Hb S with elevated Hb A'2 combinations were found. The beta-thalassaemia gene prevalence was 0.0377. Hb A2 was found in 4 persons (1.42%), and Hb F was slightly increased in 37 (22.3%) persons with a normal haemoglobin picture. Erythrocyte G-6-PD deficiency was 10% among males.
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A total of 190 patients (379 eyes), from 169 families, with retinitis pigmentosa were studied in four genetic aspects in China. A large percentage (58.9%) of affected patients appear to be sporadic cases with no family history of disease. In dermatoglyphic analysis, comparing with the controls, the increment of eight or more whorls, the increase of the number of simian and the value of atd angle in 110 patients with retinitis pigmentosa were statistically significant. In addition, the incidence of G6PD deficiency in retinitis pigmentosa (7.89%) is higher than that (3.5%) of a nonaffected population in the same area. However, there is no significant difference of ABO blood typing between 176 patients with retinitis pigmentosa and the normal population of China.
Two different dialysis methods were used to G6PD load the erythrocytes of G6PD deficient subjects. With both methods the yield of entrapment was about 30-40% of the added G6PD. The functional behaviour of these G6PD loaded erythrocytes was evaluated by HMS either in resting conditions or under oxidative stimulation. An increase of the metabolic activity of the G6PD loaded erythrocytes was found. This model provides an useful approach in studying the hemolytic activity of a variety of agents.
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A study of the relative 2dG6P utilization in mononuclear cells from a group of 150 women with breast cancer was undertaken to evaluate a possible negative correlation between G6PD deficiency and cancer, as suggested by some authors. Twenty-one women (14.00%) were heterozygotes and 2 were homozygotes (1.33%). The prevalence found was not different from that expected. It would therefore seem that the G6PD Mediterranean allele does not play a protective role against the development of breast cancer.
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Cyclic seasonal variation of genotype-specific fertility could interact with endemic diseases characterized by seasonal variation of severity resulting in changes of gene frequencies in the course of generations. Assuming that a given allele A has a frequency pw in infants conceived in the cold season and a frequency of ps in those conceived in the warm season and assuming that general fertility is the same in the two seasonal periods, the gene frequency in the population is pm = (pw + ps)/2; this frequency remains constant over the course of generations. The introduction of an endemic disease bearing negatively on general fertility and characterized by a seasonal pattern of severity could result in variations of the A allele frequency. If the maximum of endemicity coincides with the maximum value of the allele A frequency, the frequency of allele A will progressively decrease. A simple mathematical algorithm has been applied to two polymorphic enzymes (ACP1 and G6PD) correlated with past malarial morbidity in Sardinia and the Po River delta. The two systems show differences in gene frequency in relation to season of conception. The theoretical changes fit quite well with the data observed in Sardinian and Po delta populations, thus suggesting a mechanism that is an alternative to or concurrent with the classical mechanism that assumes a direct connection between the genetic systems and the biology of the malarial parasite.
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We have investigated the levels of fructose 2,6-bisphosphate and its synthesizing enzyme 6-phosphofructo-2-kinase in red blood cells from different congenital anemias. Fructose 2,6-bisphosphate concentration and 6-phosphofructo-2-kinase activity are markedly influenced by the number of reticulocytes in all the cases studied with the exception of homozygous pyruvate kinase deficiency, where no correlation was observed with the percentage of reticulocytes.
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OBJECTIVE: To determine accurately the relative frequencies and enzyme activities of the polymorphic variants of G6PD in a homogeneous population in Nigeria. SETTING: Abanla village in the outskirt of Ibadan city and the University College Hospital, Ibadan Nigeria. SUBJECT: Seven hundred and twenty one subjects who belong to the Yoruba tribe of Southwestern Nigeria. METHOD: Two mls of blood was withdrawn from each subject. G6PD activity was quantified by spectrophotometry. DNA was extracted for genotyping of G6PD by PCR. RESULTS: G6PD deficiency was 23.9% and 4.6% in males and females respectively. The gene frequencies of the different G6PD variants (Gd) were in accordance with expected Hardy-Weinberg equilibrium. Only GdA-1 type was found in subjects with deficient variants. G6PD activity decreased significantly with age among non-deficient individuals. The range of enzyme activities was wide and overlapping among the different G6PD variants. CONCLUSION: G6PD deficiency was very high in the population. The gene frequencies were similar to previous findings. Molecular methods of typing G6PD allowed for direct and accurate genotyping of the enzyme in both males and females without having to combine several methods.