Biomedical subjects
Publications and source records attributed to J Constans.
In this work, we present new data on the Hp1alpha- and Hp2alpha-chains polymorphism in different populations. We confirm the singularity of the geographical distribution of the Hp2 alleles in our samples. The analysis of the results shows that a significant correlation exists in the population between the Hp1S and Hp2 gene frequencies. An additional Hp1alpha-chain variant is described in a Pyrenean sample.
A new method based on isofocusing electrophoresis in the study of the Gc (group-specific component) polymorphism, revealed differing electrophoretic patterns. These patterns can be explained by the existence of two codominant Gc1 subtypes. This hypothesis is in accordance with several family studies. These subtypes are called Gc1F and Gc1S. Eight hundred samples were analyzed, including three different populations: Caucasoid (a western Pyrenean valley), African (Pygmy Bi-Aka), and AMerindian (Quechua-Aymara, from Bolivia). These two subtype phenotypes cannot be explored with the usual technique. They were present in each population sample studied.
This study has analyzed the haptoglobin genotype frequencies in over 900 samples from populations living on the Northern slopes of the Pyrenees. The results emphasize the importance of systematically determining the frequencies of the Hp1S, Hp1F, Hp2SS, Hp2FF, Hp2FS alleles. Hp1S was the predominant allele, the HpIS/Hp1 distribution varying between .5 and .69 as in most European populations. Hp2 alleles were observed in low frequency with differences in geographically distinct samples. Pyrenean populations in the western zones (Basques and Baronnies) were found to contain the Hp2FF allele while those in eastern regions, the Hp2SS allele. We have speculated that Hp2SS is as old as the Hp2FF, arising from southern Mediterranean areas, and suggest that Pyrenean groups have different origins.
Data are presented on red cell and serum enzyme types in six Amerindian tribes in Central and South America of whom the Siriono, Chipaya and Jicaque are markedly inbred. The data obtained in three systems (AcP, PGM, 6PGD) show aberrant phenotype and gene frequencies in these three tribes by comparison with other Amerindian populations. Uniformity of the results was observed in the following red cell enzymes: AK, G6PD, PGM2, ADA and LDH.
The authors demonstrated in the urine of patients presenting Paget's bone disease a peptide rich in hydroxyproline. The level of this compound expressed as "norleucine equivalent" was determined by chromatographic analysis of the urinary amino acids. There was a very good correlation between the total hydroxyproline level and the quantity of this peptide in the urine. The authors isolated this peptide and determined that it contained 3 hydroxyprolines for every 2 glutamines. This peptide thus seems to indicate an anomaly in the chain of synthesis; a disorder of the collagen metabolism would produce in these patients large quantities of these molecules that are excreted via the kidney. At the present stage of the author's studies this urinary peptide appears to be "specific" to Pagets disease.
By a bidimensional immuno-isofocalisation electrophoresis method a new PiN allel was revealed in 365 samples collected in a Caucasoïd population from a Central Pyrenees Valley (Les Baronnies). Its high frequency (0,151) contributes to the decrease of the PiM one. The different NS, MN and NN phenotypes were formerly classed respectively as MS and MM phenotypes. PiN allel seems to be widely distributed in Mediterranean populations.
A quantitative study, based on several African and Pyrenean populations led to the estimate of the effect of some factors on haptoglobin rate: it shows an influence of age and electrophoretic phenotype, but no apparent effect of sex. Moreover, this study led to the conclusion that there is heritability of haptoglobin rate.
This work shows the higher probability for some individuals of having Hp O phenotype: that is, children under twelve, and individual carriers of haemoglobin S (haemoglobin D carriers do not present this characteristic). This observation appears as a confirmation of the hypotheses explaining Hp O phenotype as a consequence of haemolytic anaemia. Besides, the test of two genetic models taking into account both Hp O and Hp21 M phenotypes leads to strong difficulties due to a certain irregularity of "haptoglobin" genetic system.
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THE Hl1f, Hp1s and Hp2 gene frequencies were studied in two French population samples: one from the Toulouse area and one from a Basque district. The hp alpha1F and alpha1S polypeptide chains were determined by a simple technique. The observations were in accordance with previous findings in Caucasoid populations. The frequency of the Hp1S gene was slightly higher in the Basque sample than in the group from Toulouse.
Polymorphism of erythrocytic carbonic anhydrase was studied by means of the usual technique of starch gel electrophoresis in Papio papio, Papio hamadryas, Papio cynocephalus and Papio anubis. In a sample containing both Papio cynocephalus and Papio anubis, examples of the homozygote CA-Ib/CA-Ib were found. A study of parental transmission established the CA-Ib allelic form.
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Familial cases of lupus anticoagulant were rarely described. We report the observation of two sisters with lupus anticoagulant, one with thrombocytopenic purpura and the other with systemic lupus erythematosus.
The human immunodeficiency virus (HIV) may be responsible for several types of vasculitis: leucocytoclastic vasculitis, granulomatous angiitis, angiitis associated with lymphoproliferative syndromes or necrotizing vasculitis including periarteritis nodosa (PAN). We report a case of PAN in a 62-year old HIV1-positive woman. The patient had no co-occurrent hepatitis B virus infection and was negative for antinuclear antibodies. She presented with sicca syndrome, necrotic purpura, myalgias and polyneuropathy. Skin, muscle and nerve biopsies showed signs of necrotizing vasculitis. Multiple microaneurysms typical of PAN were present on branches of the abdominal aorta. The symptoms due to vasculitis regressed after treatment with corticosteroids in bolus injections and plasmapheresis. AZT was not given owing to intolerance. The literature on vasculitis associated with HIV infection is reviewed.
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Demographic data and genetic information concerning 40 genetic systems are reported for three populations of Macushi Indians, and have been compared to those already obtained for three other communities of this tribe. These are young populations (mean age, 19 years), with a low sex ratio (90), low percentages of non-Indian ancestry (1-2%) and of marriages between locally born persons (34). Intertribal unions (14%) are less frequent than among their neighbours, the Wapishana. Fertility is high (average of 8.2 children per woman who completed reproduction), but the variance in family size and the frequency of premature deaths relatively low for populations at this cultural level. This conditions the lowest Index of Opportunity for Selection (0.45) calculated thus far among South American Indians. No variation was observed in 20 genetic systems, limited variation in 3, and larger variability in the remaining 17. In 13 of the 29 comparisons (45%), the Macushi gene frequencies present values in the middle third of the range observed among South American Indians. The previously reported private genetic polymorphism of esterase A was encountered in one of the three villages. A comparison of the genetic distances between villages with and without this polymorphism, and a similar comparison for the villages of the neighbouring Wapishana, yields no clue as to the tribe in which this polymorphism originated.
A total of 270 serum specimens from Keneba and Manduar villages of The Gambia and 126 from Bantu of Transkei were examined for the group-specific component (Gc) phenotypes by isoelectric focusing. Only one individual showed phenotype 2-2 in the Bantu population, and the sub-allele frequencies showed a distribution very characteristic of African populations. A new rare mutation, Gc1C34, was found in heterozygous combination with Gc2 allele. The synthesis of the existing Gc sub-type data was examined for its anthropological implications.