Biomedical subjects

S S Papiha

Publications and source records attributed to S S Papiha.

142 records · Page 8Linked to original sources

PubMedDate not supplied

Phosphoglucomutase (PGM) and group-specific component (Gc), isoelectric focusing sub-types among Zoroastrians of Iran.

A total of 243 and 236 red cell and serum samples from the Zoroastrians of Iran were sub-typed by isoelectric focusing for the red cell enzyme phosphoglucomutase locus 1 and the group-specific component respectively and the phenotype and gene frequency values were calculated. Comparison of the results with those of examinations performed on African, Asian and European population shows that for both the PGM and Gc systems Zoroastrians show similarity to western populations and differ from middle-eastern populations.

Carrier Proteins↗

PubMedDate not supplied

Group-specific component (Gc) subtypes in Gambian and Transkeian populations: a description of a new variant.

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.

Alleles↗

PubMedDate not supplied

Complement polymorphism in Colombia.

The polymorphism of complement component C3, BF and C4 was studied in an urban population of Bogota, Colombia and for C3 and BF, genetic heterogeneity was further examined among the five villages of the Colombian Andes. For both C3 and BF systems there is considerable variation of allele frequencies among the five villages and overall there is significant heterogeneity among the six population groups studied.

Alleles↗

PubMedDate not supplied

Gene frequencies of Gc and PGM subtypes.

Allele frequencies are presented for subtypes of phosphoglucomutase locus 1 and the group-specific component (Gc) in samples from a number of human populations. Compared with each other and with published data, continental samples are very similar in gene frequency to their reported distributions in the literature, but the small island populations are much more variable.

Alleles↗

PubMedDate not supplied

Serogenetic studies among an urban and two tribal populations of Orissa, India.

Phenotype and gene frequencies of blood groups, plasma proteins and red cell enzymes (23 systems) are examined in two tribal and one low social class urban population of Orissa, India. Genetic heterogeneity is suggested not only between the tribal and urban populations but also between the tribal groups. The gene frequencies of tribal populations indicate a genepool with an ancestral component from the populations of north-east India with some mongoloid affinity, but it seems that there has also been some gene flow from them into the urban population.

Alleles↗

PubMedDate not supplied

Population and biochemical genetics of the human mitochondrial malic enzyme.

The phenotypic variation of the mitochondrial malic enzyme (MEM) was examined in 121 brains and 46 heart tissue samples from the population of north-east England. There was no difference in gene frequency distribution between sexes and the two tissues. However, a significant variation has been observed in males compared with a Scottish study. The three common phenotypes of brain were partially purified on a DEAE Sephadex column. The kinetics, heat stability and dicumarol inhibition studies show no biochemical advantage for any of the phenotypes in human brain. The extensive polymorphism of MEM suggests a possible, yet unknown, selective factor for the spread of this polymorphism. With the existing evidence of regional and racial differences, the role of random genetic drift cannot be ruled out.

Brain↗

PubMedDate not supplied

Complement polymorphism in Greece.

The polymorphisms of the complement components C2, C3, C4 and BF have been studied in a sample of 166 unrelated individuals from Northern Greece. The C3*F and BF*F allele frequencies of Greeks are within the range of frequencies reported from Europe. A single individual with a rare heterozygote variant C2C/C2A was found in Greeks. This C2*A allele was found for the first time in European Caucasoids. For the C4 system six different alleles were found at both C4A and C4B loci. There were a low frequency of the null alleles at the C4A locus and a relatively high incidence of gene duplications in this system.

Complement C2↗

PubMedDate not supplied

Genetic variation in north-east England.

Phenotype and gene frequencies of polymorphic systems in blood specimens from 796 donors in Northumberland and Durham (north-east England) were analysed according to region of residence. Significant differences exist among the five geographically defined subpopulations, and it is argued that these derive from patterns of historical settlement.

Blood Group Antigens↗

PubMedDate not supplied

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↗

PubMedDate not supplied

Genetic structure and microdifferentiation among four endogamous groups of Maharashtra, western India.

Phenotype and gene frequencies of 24 blood group, serum protein and red cell enzyme loci are examined in four endogamous groups (Brahmin, Maratha, Gujarati Hindu Patel and Parsee) of Maharashtra, Western India. Several genetic systems are investigated for the first time in this region. Genetic heterogeneity is suggested, although the overall variation shows general agreement with the populations already studied from Western India. In addition to the historical migration and possible selective effects, the present-day gene pool of Maharashtra is greatly influenced by sociocultural adaptation and breeding structure. The presence of rare alleles ESD*5, and BF*S1 suggests a Caucasoid affiliation of populations of this region.

Blood Group Antigens↗

PubMedDate not supplied

Study of three hypervariable DNA loci (D1S7; D7S22 and D12S11) in three European populations.

To investigate the population genetic characteristics and genetic affinity, DNA profiles of three highly polymorphic VNTR (variable number of tandem repeats) loci (D1S7; D7S22 and D12S11) were studied in 405 individuals from three major European populations (English, Spanish and Basques). Like other studies on VNTRs, a large significant heterozygote deficiency was observed in all three populations. This decrease was ascribed to the limitation, coalescence and non-detectibility of alleles associated with the RFLP (restriction fragment length polymorphism) technique, through which the VNTR loci are genotyped. When the non-detectable alleles were taken into consideration, analyses of fragment sizes at these loci within each sample, as well as their fixed binned analyses, reveal that the assumptions of independence of allelelic occurrences within and between loci are valid for this European data. By comparing genetic variation at three VNTR loci with 17 blood groups, proteins and HLA loci in three well defined European populations, it is shown that the pattern of differentiation at these sets of loci are in general parallel especially for the hypervariable loci HLA and VNTR. Fixed-bin allele frequencies, therefore, are the best descriptions of such a database both for population genetic and forensic calculation studies. The Basques, with regard to VNTR loci, do not show any reduced genetic variability compared to other two European populations (English and Spanish).

Chromosome Mapping↗

PubMedDate not supplied

Anthropology of the apoplipoprotein E (apo E) gene: low frequency of apo E4 allele in Basques and in tribal (Baiga) populations of India.

The distribution of apolipoprotein E (apo E) polymorphism was examined in 11 population groups not previously studied for this system. There is a marked difference in phenotype and gene frequency between the populations of England and Spain. The south European populations of Basques and Spanish non-Basques showed greater similarity to the populations of South Asia. The study clearly indicates that the distribution of apo E alleles does match with regions showing a high mortality rate of coronary heart disease. The data presented also indicate that authochthon groups such as Basques in Europe and tribals in India may throw better light on the role of apolipoproteins in the regulation of lipid levels in disease.

Alleles↗

PubMedDate not supplied

Variation in DNA polymorphisms of the short arm of the human X chromosome: genetic affinity of Parsi from western India.

Four DNA probes (L754, p99-6, pERT87-1 and pERT87-15) from the short arm of the human X chromosome were studied in two European (English and Spanish) and two Asiatic Indian (Maratha and Parsi) populations. All four RFLPs showed conclusive heterogeneity among the four populations. Nei's genetic distance (d) matrix shows an affinity between the Parsis and the population from southern Europe. There is an interesting suggestion of a west to east clinic for allele *2 detected by probe L754. Genetic heterogeneity found for the X-linked RFLPs prove that these markers are a useful tool for population genetics studies.

Alleles↗

PubMedDate not supplied

Haptoglobin subtypes among four different populations.

Haptoglobin subtypes were analysed by isoelectric focusing in four populations from Colombia, England, Nigeria, and India. There is a wide range of variation of allele frequencies in these four populations: HP*1S = 15-28%, HP*1F = 5-19%, HP*2FS = 54-79%. With the exception of the English, and the Spanish-speaking population of Colombia, all interpopulation comparisons showed significant heterogeneity. There is an extreme variation for the HP*1F allele in different populations, and a possible geographical cline of the HP*2FS allele increasing from west to east. The data presented here suggest that HP subtypes provide a useful anthropogenetic marker for racial differentiation.

Alleles↗

PubMedDate not supplied

HLA antigens in five Amerindian groups (Yuko, Bari, Tunebo, Guane and Paez) of Colombia: results of 'Expedición Humana'.

The serological HLA types (A, B, C and D loci) were studied in five different Indian groups in Colombia. The range of polymorphism was not very restricted in these groups, but there was significant genetic heterogeneity among the five populations in all the HLA loci. The gene frequency data, when converted into a kinship matrix and a two-dimensional eigen vector plot, showed a closer affinity between Bari and Yuko Indians, while Guane, Tunebo and Paez Indians were not only genetically different from the former but also well-differentiated from each other. It seems therefore from this study that geographical proximity may play a greater role than linguistic similarities in the genetic affinities of Colombian Amerindians.

Antigenic Variation↗

PubMedDate not supplied

A genetic study of some Andhra Pradesh populations.

Phenotype and gene frequencies of 10 blood group and 12 red cell enzymes are examined in urban Hindu and Muslim and tribal Lambadi samples of Andhra Pradesh, South India. Genetic heterogeneity is suggested between the tribal and the urban samples, both in their gene frequencies and in their breeding structure.

ABO Blood-Group System↗