Biomedical subjects
Publications and source records attributed to S S Papiha.
In a study of 86 histologically defined glomerulonephritis patients, a striking association between the BfF allele and glomerulonephritis has been found. There is also an enhanced genetic predisposition to glomerulonephritis in individuals with rare Bf alleles. The role of the chromosome 6 loci in the pathogenesis of the disease is emphasized.
Two hundred and fifteen schizophrenic patients (108 males and 107 females) in north-east England have been investigated for Gc types and subtypes and compared with the frequencies in first-degree relatives and controls. Böök et al. (1978) described Gc2 allele association with schizophrenia. No such association was found with the Gc2 allele in the present study although there is a tendency towards an increased frequency in females. In subtype allele frequencies the female patients showed a significant reduction of Gc1S allele. The results suggest a difference in susceptibility associated with the Gc locus in patients of different sexes.
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The concentration of beta 2-glycoprotein I was studied in four tribal populations of Himachal Pradesh, India. These groups did not show any striking interpopulation differences in either the serum concentration or in the phenotype and gene frequencies. Compared to other Indian populations, the tribal populations showed significantly low frequencies of BgD. These differences emphasize the potential usefulness of the beta 2-glycoprotein I system in anthropological studies.
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A study of gene frequencies at 24 loci and their phenotypes in four castes of Gujarat indicates their general alignment with other populations of western India. There is distinct genetic heterogeneity among them, which appears to be maintained by an endogamous breeding structure. The presence of some marker alleles suggests appreciable African influence in at least one of the castes, but other explanations are possible.
Data are presented on serological and electrophoretic variants of 18 systems of red cells in 228 individuals belonging to a scheduled tribe (Kanet) and a scheduled caste (Koli) of Kinnar district in Himachal Pradesh, India. Differences in gene frequencies clearly indicate biological distinction in the local population. The possible cause of this genetic heterogeneity is discussed.
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472 individuals were studied for the gene frequency variation Glyoxalase I (GLO) in three different regional populations of Iraq. No genetic heterogeneity exists among the three populations of the country but the GLO1 gene in Iraq appears to share European frequency.
Study of the blood group, isoenzyme, and serum protein systems representing polymorphic variants at 23 loci, in a population of 53 multiple sclerosis patients in Orkney, their relatives, and control series, showed that patients were neither morre homozygous nor more inbred than controls. Any possible association of the disorder with the ABO and rhesus blood groups was not directly causal, but was related to the families of the patients rather than to the patients themselves.
The distribution of C'3 phenotypes was studied in one tribal and three urban populations from India. The C'3F gene was found low in frequency compared to European and West Asian populations. Quantitatively also, the concentration of the C3 component in the Indian region was found significantly low to the European and West Asian populations reported previously.
Examination of blood groups, plasma proteins and red cell enzyme types (23 loci), in a sample of 145 Bhils, a tribal group of Madhya Pradesh, Central India, demonstrates their genetic uniqueness. They differ in a number of systems from the nearby nontribal groups both of Hindus and Muslims. The results suggest that the Bhil frequencies include vestiges of the ancestral genepool of a more widespread aboriginal population whose influence is detectable in the gene frequencies of some other populations in India.
In Madhya Pradesh, India, 43 patients with thromboangiitis obliterans showed a decrease in total serum proteins and in the albumin fraction, an increase in a1-and a2-globulin fractions, and decrease in the albumin/globulin ratio. In the ABO blood groups, patients show a significant excess of group B individuals. It is possible that the disease may be more severe in individuals with the B blood group substance.
A new variant malate dehydrogenase is described, designated S-MDHInd to indicate its discovery in the Indian subcontinent pending full comparison with all other variants. It occurred during a survey of the incidence of variant S-MDH phenotypes in 4149 subjects in north-east England and 1494 subjects from several populations in the Indian region. The variants previously thought to be restricted to the New Guinea region and to African populations occurred in three English subjects in northeast England. The incidence of variant S-MDH phenotypes in other populations is summarised.
The gene frequencies in samples of two language groups from Afghanistan, comprising 104 Pushtu and 179 Dari subjects living in Kabul, have been examined for 24 loci. Some systems suggest greater affinity to the west (e.g. the MS gene combination, the esterase D2 allele), some to the east (e.g. the K blood group), while others are intermediate between those of India and the Orient on the one hand, and Europe and the West on the other. In general, the gene frequency levels are much as would be expected from the geographical position of the country. The two language samples are essentially similar in gene frequency, so any earlier gene frequency differences that may have existed between the language groups are no longer distinguishable. However, the amount of heterozygosity shows that the Kabul population is not yet homogeneous and that the two endogamous linguistic groups remain disparate to some extent.
The phenotypic variation in the esterase D phenotypes among 2,405 individuals in 14 samples from populations in Europe, Africa and Asia are reported. There exists a marked difference in esterase D allele frequencies in different continental regions. Comparison of the world population data so far available show that esterase D is another useful genetic parameter for the study of population diversity.
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In a study of immunoglobulin levels in 192 apparently healthy individuals in Iraq, regional differences occur in IgE and IgG. The main levels of IgG, IgM and IgA tend to be low, and of IgE clearly elevated. It is suggested that this pattern may be explained by the presence of intestinal parasites which stimulate IgE production. The genetic differences that exist between the regional populations, and the occurrence of associations of immunoglobulin level with several polymorphic systems, suggests the possibility of a genetic element in the regional immunoglobulin differences.