Genetic distances have been estimated among three Muslim groups, the Sunni, Shia and the Bohra, and a Hindu group, the Brahman, from five districts of the centrally located state of Madhya Pradesh in India. The distances are based on five genetic systems, the ABO, MN and Rh blood groups. PIC taste sensitivity and colour blindness. None of the 6 distances among the 4 groups was statistically significant. However, cluster analysis showed that Sunni and Shia form a very close cluster which is successively joined by Brahman and Bohra, the latter having comparatively large distances from all the other groups.
The clinical course up to 6 years of age is described in a boy with Maroteaux-Lamy syndrome as indicated by the clinical characteristics: increased urinary excretion of dermatan sulphate and deficiency of arylsulphatase B in leucocytes and cultured skin fibroblasts. A subsequent pregnancy of the mother was monitored by enzyme analysis of culture amniotic fluid cells. The prenatal diagnosis of an affected fetus was made and confirmed after termination of the pregnancy.
Peripheral blood lymphocytes from 8 patients with B-derived chronic lymphocytic leukaemia were stimulated by Staphylococcus aureus bacteria strain Cowan 1 with T cell mitogens PHA or PWM in 5-7 day suspension cultures. For the first group of patients proliferation and maturation tests were performed on T cell enriched and T cell depleted subpopulations, obtained from harvested lymphocytes at the end of cultures by the sheep red cell rosette technique. To re-examine mutual influences of cultivated T and B cells in the second group of experiments, lymphocytes from CLL patients and from 5 healthy individuals were investigated by the use of transmembrane cocultivation system after Feldman and Basten. The proliferative responses to lectin and to bacteria were assessed by 3HTdR-blastic and mitotic indices. The maturation process of B lymphocytes was examined by cytoplasmic Ig, studied by FITC-conjugated antisera. Results obtained with cocultivation system support the view that T cell replacing factor(s) were required for inducing prolonged growth and development of maturation of more numerous B lymphocytes in response to Staphylococcus aureus, a T cell independent, B specific polyclonal stimulator. Results analysed in different patients indicate various degrees of maturation of B cells including their differentiation towards a plasmacytoid cell, accompanied by various proliferative capacities of B and T lymphocytes. This functional analysis reflects the heterogeneity of B-CLL patients group.
Data on the antigen non-specific and antigen specific genetic control of immune response are presented. Particular emphasis is placed on the role of the major histocompatibility complex in the regulation of immune functions.
Dermatoglyphic features on fingers and palms were assayed in 50 male patients with ankylosing spondylitis (AS) and in 36 families (184 family members, 1st degree male relatives). In patients significantly higher occurrence of whorls and arches on finger tips was found. Loops were significantly less frequent when compared to standard population patterns. Decreasing number of palmar patterns was found in AS patients. Distal position of triradius, as well as more frequent occurrence of t', t" make the difference between AS patients and Polish population. Main lines D, C, B, A in AS patients tend to end in areas of lower numbers (9,7,5,4). That makes a significant difference with results obtained from population studies (p less than 0.01). The main line D in the area 9 occurs more frequently in AS patients expressing HLA-B27 antigen than in patients not showing it (p less than 0.01).
A B O, Rh, MNSs, Kell and Lewis blood groups and also secretor and nonsecretor system in 97 samples from hospitals and 97 samples as control group have been studied in Dasht Mishan, Khuzistan, Iran. The results showed that there exists a relatively high frequency of the B(0.278), K(0.53) and Du(0.166) genes compared to the neighbouring populations. They also showed a high frequency of cDe(0.206) and that of MN(55.67-58.76). Hospital samples and the control showed significant differences for the B, Se and se genes and also for the Ee and ee compositions. Observed differences between the hospital samples and the control were probably not simply because of selection but other factors like founder effect and genetic drift have certainly affected the gene frequencies in the populations studied.
A time homogeneous stochastic process is used to describe the dynamics of a population of size N composed of two types. A method is presented for estimation and hypotheses testing with regard to relative fitness of the two types in the population.
The study reports on the effect of 6 antimalarial drugs on red cell agglutination by Erythrina lithosperma. Phaseolus vulgaris and Ulex europaeus lectins. Some drugs inhibited agglutination while others potentiated it. Possible causes have been discussed.
Morpho-behavioural distances between three endogamous Muslim groups (Sunni, Shia and Bohra) and one Hindu group (Brahman) of Madhya Pradesh, separately for males and females, were estimated. All the differences were statistically significant. The male and female distances were combined into a pooled distance. The Bohra group was found to be distant from all the other groups in both males and females. The relationships between the other three were different in the two sexes-Sunni and Shia forming the closest cluster in males and Sunni and Brahman in females. The Sunni were intermediate between the Shia and the Brahman in both sexes. The morpho-behavioural distances were compared with the genetic distances.
A randomly selected group of rhesus monkeys (Macaca mulatta) living in seminatural conditions has been utilized to study the relationships between an infant and its mother and between an infant and the other members of the group during the development of the infant from the 1st to the 6th month of life. Considering the proximity (0 to 3 m) for different types of partners, it has been found that the greatest difference between sexes occurred towards the 3rd month of the infant's life. For the behaviour On mother (proximity 0 m) the author has made an extra analysis. The results show that, in respect of the development of the infants, the relative frequency and duration of On mother decrease for both male and female infants, though at different rates: from the 3rd month of life, the female infants stay longer in On mother than the male infants. A significant positive correlation between frequency and duration of On mother was found in females.
Haptoglobin patterns were studied in Favism patients (n = 361). G6PD deficients (n = 42) and healthy controls (n = 168). A high frequency of ahaptoglobinemia (79.50%) was found in Favism patients. No such type was detected in the G6PD deficients and the control group. In the Favism patients, the Hp2-1 and Hp2-2 patterns exhibited the normal and weak (Hypo) type, whereas the G6PD deficient and normal samples did not show such a differentiation. The Hp2 allele frequency was noted to be slightly higher in the G6PD deficient persons.
Serum proteins like haptoglobins and transferrin and total protein types were determined in healthy donors from West Bengal, with different levels of industrialisation and urbanisation, by disc gel electrophoresis. The frequency of the allele Hp2 was much higher in all the areas. A highly significant difference was observed between industrial and agricultural areas. However, the differences among the industrial districts were not significant except between the districts of Howrah and 24-Parganas.
The polymorphism of erythrocyte acid phosphatase has been investigated in seven endogamous caste groups of Patiala and Faridkot districts of Punjab in north-west India. The frequency of the Pa allele in these groups varies from 26.8 to 38.3%, but there is no evidence for any significant heterogeneity in the total sample. The Pc allele is present in some of the groups, though in non-polymorphic proportions. Furthermore, the distribution of this polymorphism in Indian populations has been examined using gene frequency data available in the literature. The present study shows that while no clinal component is discernible in the distribution of this red cell enzyme in India, the populations of north India stand out with comparatively high Pa and Pc frequencies, and in almost all regions the incidence of these two alleles is higher in the non-tribals as compared to the tribals. The possible causes of this heterogeneity are discussed.
The model of combined segregation-linkage analysis is presented. The method offers the opportunity of simultaneous estimation of recombination fraction between the locus of genetic marker and that of a disease gene and the evaluation of its inheritance pattern. The computer programme MUBAS estimates combinations of parameters: dominance-d, penetrance-t and recombination fraction by the method of maximum likelihood using the distribution of the observed numbers of sib pairs: ill/proband and healthy/proband.
Cultured fibroblasts deriving from Wilson disease patients were compared with the control ones in respect of copper accumulation and low molecular weight copper binding protein (metallothionein) properties. No evidence was obtained that metallothionein abnormality could be a primary cause of copper metabolism disturbances in Wilson disease. The determination of radioactivity, present in serum low molecular weight fraction 24 hours after intravenous injection of 64Cu, has been suggested as an additional tool in Wilson disease diagnosis in doubtful cases.
A boy with clinical characteristics of Menkes disease was described. Extremely low serum copper concentration, low ceruloplasmin level and increased copper accumulation in cultured fibroblasts confirmed the diagnosis. Electronmicroscopy of elastic cartilage showed abnormalities of chondrocyte function and a derangement of extracellular substance polymerization.
A complex segregation analysis based on the maximum likelihood method was applied on a sample of 329 families with CP and 687 families with CL +/- P. The results for CP malformations were equivocal, since the authors were unable to distinguish between the hypothesis of recessive inheritance with complete penetrance (chi 2 = 19.60) and that of multifactorial inheritance (chi 2 = 20.38). For CL +/- P lesions the most plausible hypothesis seemed to be that of dominant inheritance with low penetrance (t = 0.277) and relatively high frequency of phenocopies. For these hypotheses the values Q of theoretical recurrence risk were computed and presented.
Differential diagnosis in 144 cases of hyperphenylalaninemia detected through the newborn screening is discussed. In 123 infants phenylketonuria was diagnosed, so they were treated with the low phe diet. Verificatory examinations performed in diagnostically doubtful cases with the use of protein loading confirmed persistent enzymatic defect in all of them. In 21 infants with blood serum phenylalanine level below 15 mg% and lack of phe urinary metabolites, preliminary diagnosis of mild hyperphenylalaninemia was made and they were left without dietary treatment. A decrease with age in phenylalanine and tyrosine values was observed in this group. Mental development score, in the group as a whole, at age 3-7 years was normal. Two cases with relatively low IQ values have been discussed in regard to possible reason of their mental delay.
The addition of hydroxyurea in final concentration 1.3 X 10(-5) M increases the frequency of fraX in comparison with cultures without hydroxyurea. The same concentration of hydroxyurea did not induce fraX formation and "nonspecific" gaps in cultures of lymphocytes derive from healthy individuals. The possible explanation of this effect is discussed.
Results of chromosomal studies done on 3665 newborn children from central Poland have been described. As against a global incidence of 1:1022 for trisomy G and 1:1308 for the balanced translocation D/D in infants, the respective figures for the Polish infants were, 1:610 and 1:1221. Likewise, against the global incidence of 1:823 for the karyotype 47, XXY and of 1:1072 for the karyotype 47, XYY in infants, the respective incidence in the Polish infants was 1:626 and 1:939. The study has demonstrated also that the frequency of occurrence of the different widths of the C-bands had a distribution close to normal. The authors have noted that the children with chromosomal abnormalities were more frequently not as well developed at birth as were children with normal karyotypes.
