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Biomedical subjects

S S Papiha

Publications and source records attributed to S S Papiha.

18 recordsLinked to original sources

Origin of the Romany gypsies--genetic evidence.

Genetic heterogeneity and affinity was examined between nine Romany speaking gypsy populations and two of their possible ancestral populations from India. For AB0, Rhesus (D), MN and HP systems there exists a conclusive heterogeneity among these populations. Three gypsy populations from Western Europe (English, Welsh and Swedish) are genetically distinct from the rest of the East European gypsies and the populations of India analysed in this investigation. Overall the genetic differentiation among these populations is moderately high (RST = 0.029). The results also indicate the relative close relationship among the East gypsies and the two selected nomadic populations of India. The factors responsible for the moderate diversification of the East European gypsies may be high rate of migration, isolation and random drift, while among the Western gypsy populations admixture seems to be an important differentiation factor.

Adult

Mapping of the Darier's disease gene by serogenetic markers: results in two large British kindreds.

The authors have carried out genetic linkage studies in 57 subjects from two large kindreds of Darier's disease, using a range of serological and biochemical polymorphisms of known chromosomal location. In these kindreds, about 7% of the genome has been excluded for close linkage to the Darier's disease gene. However, one family showed positive lod scores for linkage with the Duffy blood locus (1p13); lod scores were negative in the other family, but in the combined families the total score for this marker was still positive and does not completely exclude linkage.

Chromosome Mapping

Polymorphisms and multiple sclerosis in Orkney.

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.

ABO Blood-Group System

C3 polymorphism in some Indian populations.

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.

Asia, Western

A genetic survey in the Bhil tribe of Madhya Pradesh, Central India.

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.

Adenosine Deaminase

ABO blood groups and serum proteins in thromboangiitis obliterans (Buerger's disease).

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.

ABO Blood-Group System

Genetic variants of cytoplasmic malate dehydrogenase (MDH:EC:1.1.1.37) in populations in England and the Indian subcontinent. A new S-MDH variant.

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.

Bangladesh

Genetic polymorphisms in Afghanistan.

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.

Afghanistan

The world distribution of the electrophoretic variants of the red cell enzyme esterase D.

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.

Africa

Immunoglobulin levels in Iraq.

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.

Blood Group Antigens

Esterase D and superoxide dismutase polymorphisms in Iraq.

From a study of 320 individuals superoxide dismutase (SOD) variants are shown to be present in Iraq, and it is suggested that this genetic system may be useful for the study of historical population movement in the Middle East. The esterase D gene frequencies show no significant heterogeneity among the different regions of the country.

Esterases

Some hereditary blood factors of the Bengali Muslim of Bangladesh (red cell enzymes, haemoglobins, and serum proteins).

In a sample of Bengali Muslems from Dacca, haptoglobin, group-specific component, haemoglobin, adenosine deaminase, adenylate kinase, 6-phosphogluconate dehydrogenase, phosphoglucomutase, acid phosphatase and several other red cell enzyme types were studied. For most serum protein and red cell enzyme systems the gene frequencies are similar to those in other populations to the west of Bangladesh, but others suggest affinity with populations to the east.

Acid Phosphatase

Serum alkaline phosphatase in patients with multiple sclerosis.

Sera from multiple sclerosis patients show a deficit of intestinal alkaline phosphatase (serum type Pp2) by comparison with normal sera. This is not due to variation in ABO frequency, since the specimens from patients and normals are matched for ABO frequency, and it is not due to differences in secretor frequency, but represents a real dificit for Pp2 in patients with multiple sclerosis, particularly noticeable in group O individuals.

ABO Blood-Group System

Genetic variation in Brac, Croatia.

A serological survey of the Dalmatian island of Brac (Croatia), based on a total sample of 747 subjects, shows considerable local genetic variation. While the overall gene frequencies are much as expected from the island's geographical position, the local genetic heterogeneity is made up of differences between the inland and coastal villages, differences between the two coastal areas, and variation among the older inland villages. This heterogeneity is interpreted as deriving from the settlement process (founder effect), random differentiation, and the essentially local marriage pattern.

Blood Group Antigens