Biomedical subjects

S S Mastana

Publications and source records attributed to S S Mastana.

At least 19 recordsLinked to original sources

PubMed2006

Genetic variation of 13 STR loci in the four endogamous tribal populations of Eastern India.

We have analysed 13 autosomal STR loci in four endogamous tribal populations from two eastern states (Orissa and Nagaland) of India. The Gadaba, Kuvi Khond and Lotha Naga populations have not been analysed for microsatellite genetic variation previously. The allele frequencies for all loci are within the range observed in the geographical region and racial background, though some alleles showed greater variation. Departures from the Hardy-Weinberg equilibrium were tested by three methods and two loci (THO1 and TPOX) showed significant departures for all measures in Gadaba and Lotha Naga populations. The exclusion probability and discrimination probability were high for all analysed loci in all populations. There is no evidence for association of alleles among the STR loci studied. This allele frequency information will be useful for forensic, paternity and population genetic studies.

DNA Fingerprinting↗

PubMed2003

Genetic diversity of serum proteins in three subpopulations of the Maria Gond tribe of Madhya Pradesh, India.

The phenotype and allele frequency distribution of group specific component (GC), transferrin (TF), alpha-1-antitrypsin (PI) and apolipoprotein E (APOE) was determined by isoelectric focusing of plasma samples from three subpopulations (Bison Horn Maria of the Kuakonda and Tokapal Block, and Abuj Maria of the Abujmar Hills of the Orchha block) of the Maria Gond tribe of Madhya Pradesh, India. A considerable level of allele frequency variation was observed in these subpopulations, which highlighted social and geographical isolation among them. The average heterozygosity for these IEF subtype systems was high (29-39%) and the gene diversity among these subpopulation groups was of low to moderate range (1.4%). The overall analysis showed that these polymorphisms are useful anthropological markers for micro-evolutionary and genetic structure studies.

Apolipoproteins E↗

PubMed2001

Apolipoprotein E polymorphism in India: high APOE*E3 allele frequency in Ramgarhia of Punjab.

High resolution two dimensional gel electrophoresis with the combination of isoelectric focusing (IEF) and density gradient sodium dodecyl-polyacrylamide gel electrophoresis (DG-PAGE) have been employed to investigate the distribution of APOE in Ramgarhia (n = 80) and Ramdasia (n = 70) of Punjab, India. Three alleles APOE*E2, APOE*E3 and APOE*E4 were observed in Ramgarhia and Ramdasia with the frequencies of 0.031, 0.913, 0.056 and 0.043, 0.886 and 0.071, respectively. Higher heterozygosity (20.8%) in Ramdasia reflects greater variation at the APOE locus. The APOE*E3 allele is found to be the highest (0.913) in Ramgarhia in comparison to forty-one populations of the world. A decreasing cline from south to north was evident for *E2 and *E4 allele frequencies (y = -0.002x + 0.141, r = 0.78 and y = -0.004x + 0.229, r = 0.83, respectively, and an increasing cline for the *E3 allele towards north was observed (y = 0.006x + 0.629, r = 0.82) in Asia.

Adult↗

PubMed2000

Molecular genetic diversity in 5 populations of Madhya Pradesh, India.

This paper presents data on the distribution of 3 amplified fragment length polymorphisms (D1S80, APOB, and YNZ22) in 5 populations of Central India. Using the polymerase chain reaction technique, 3 caste (Brahmin, Khatri, and Dhimer) and 2 tribal (Gond and Baiga) populations were studied for the 3 loci. The allelic variations observed in the caste populations are compatible with those of many Caucasian populations, but the caste populations showed significant overall and interpopulation variability within the region. D1S80 allele *24 varied from 32% (Dhimers) to 42% (Brahmins). Allele *18 was not observed in Baiga tribal populations, but in caste populations it varied from 11% (Dhimers) to 24% (Brahmins). Both tribal populations showed higher frequencies of allele *31 (17%-18%). For APOB, caste populations again showed bimodal distribution of alleles *35 and *37, but in tribal populations higher allele numbers (*47, *49) were also frequent. For YNZ22, extensive variation was observed for all populations studied. Allele *4 was the most common in caste populations, while alleles *2, *7, and *10 were prominent in tribal populations. The level of gene differentiation is not very high for the 3 systems studied in the 5 populations. Overall, allele frequency distribution, heterozygosity, and genetic diversity analysis show that the genetic diversity observed is socially and geographically structured.

Alleles↗

PubMed1999

Deep common ancestry of indian and western-Eurasian mitochondrial DNA lineages.

About a fifth of the human gene pool belongs largely either to Indo-European or Dravidic speaking people inhabiting the Indian peninsula. The 'Caucasoid share' in their gene pool is thought to be related predominantly to the Indo-European speakers. A commonly held hypothesis, albeit not the only one, suggests a massive Indo-Aryan invasion to India some 4,000 years ago [1]. Recent limited analysis of maternally inherited mitochondrial DNA (mtDNA) of Indian populations has been interpreted as supporting this concept [2] [3]. Here, this interpretation is questioned. We found an extensive deep late Pleistocene genetic link between contemporary Europeans and Indians, provided by the mtDNA haplogroup U, which encompasses roughly a fifth of mtDNA lineages of both populations. Our estimate for this split is close to the suggested time for the peopling of Asia and the first expansion of anatomically modern humans in Eurasia [4] [5] [6] [7] [8] and likely pre-dates their spread to Europe. Only a small fraction of the 'Caucasoid-specific' mtDNA lineages found in Indian populations can be ascribed to a relatively recent admixture.

Animals↗

PubMed1998

Does vitamin D receptor polymorphism influence the response of bone to brisk walking in postmenopausal women?

Vitamin D receptor (VDR) polymorphism may be a genetic factor affecting bone mineral density (BMD). This study examined the interaction of VDR genotype with the effect of an exercise intervention on bone measurements in UK postmenopausal women. 33 walkers, who completed 20.4 +/- 3.9 (mean +/- SD) min day-1 of brisk walking over 1 year, and 36 controls agreed to give DNA samples. BMD was measured at the lumbar spine, femoral neck and calcaneus by dual energy X-ray absorptiometry and broadband ultrasonic attenuation (BUA) was measured at the calcaneus. VDR genotype was determined by BsmI restriction fragment length polymorphisms and the presence, or absence, of the restriction site was signified by 'b' or 'B', respectively. At baseline there was no significant difference in BMD between VDR genotypes, but BUA was significantly higher in the BB genotype than in the Bb or bb genotype. Although there was no significant difference in 1-year change (%) in BMD and BUA between the three genotypes, the 1-year changes in spinal BMD and BUA in the bb walkers (0.75 and 2.35%, respectively) were significantly different from those in the bb controls (-1.25 and -6.10%, respectively). These results suggest that in the bb genotype of VDR, bone may be more responsive to exercise than in other VDR genotypes in British postmenopausal women.

Absorptiometry, Photon↗

PubMed1998

Genetic variability of transferrin subtypes in the populations of India.

Five hundred fifteen samples from five populations of India (Brahmins, Marathas, Patels, and Parsees of western India and Hindus of Andhra Pradesh) were analyzed for transferrin subtypes using the isoelectric focusing technique. The allele frequencies of 8444 samples belonging to 93 populations of India have been tabulated, and data were analyzed for genetic diversity among geographic, regional, and socio-cultural groups. Three relatively common alleles, TF*C1, TF*C2, and TF*C3, showed wide variation in various populations of India. Compared with western India, a high frequency of the TF*C2 allele was observed in eastern India. This variation of the TF*C2 allele showed a geographic cline increasing from west to east, giving a significant positive correlation between the TF*C2 allele frequency and longitude. Various genetic processes that possibly maintain TF polymorphism are selection, admixture, genetic drift, and isolation by distance. The possible influence of various genetic processes is discussed.

Emigration and Immigration↗

PubMed1997

Acute effects of exercise on postprandial lipemia: a comparative study in trained and untrained middle-aged women.

Repeated episodes of exaggerated postprandial lipemia may hasten the progression of atherosclerosis. The purpose of this study was to compare the lipemic response to a high-fat meal in trained and untrained women in the presence and absence of the acute effects of exercise. Nine endurance-trained and thirteen untrained women aged 40.4 +/- 3.3 and 43.8 +/- 4.3 y (mean +/- SD), with maximal oxygen uptake of 50.3 +/- 5.9 and 31.7 +/- 3.6 mL.kg-1.min-1, and a body mass index (kg/m2) of 22.2 +/- 0.9 and 22.9 +/- 2.3, respectively, underwent two trials, each over 2 d. Subjects did not exercise during the 2 d leading up to a trial. On day 1 they either walked for 90 min at 60% of maximal oxygen uptake (exercise), or refrained from exercise (control). On day 2 venous blood and expired air samples were obtained in the fasted state and for 6 h after consumption of a high-fat meal (1.70 g fat, 1.65 g carbohydrate, and 0.25 g protein/kg fat-free mass). Exercise decreased lipemia as determined by the mean (+/-SEM) area under the plasma triacylglycerol concentration versus time curve: trained, 6.96 +/- 0.48 compared with 4.87 +/- 0.33 mmol.h/L; untrained, 8.36 +/- 0.83 compared with 7.01 +/- 0.79 mmol.h/L (control and exercise trials, respectively, both P < 0.05). Lipemia differed significantly between groups in the presence of this acute effect of exercise but not in its absence. Exercise decreased insulinemia in trained women (543 +/- 25 compared with 433 +/- 24 pmol.h/L, P < 0.01) but had no effect in untrained women (592 +/- 34 compared with 585 +/- 47 pmol.h/L). Total oxidation of fat over the 6-h postprandial period was enhanced by exercise, and to a similar degree in each group of women.

Adult↗

PubMed1997

Genetic study of the tribal populations of Andhra Pradesh, south India.

Regional variation in the genetic constitution and genetic differentiation of three tribal populations (Koya, Lambadi, and Chenchu) of Andhra Pradesh, South India, was examined from the data of 27 polymorphic loci (9 blood groups, 13 red cell enzymes, and 5 serum proteins). Significant heterogeneity was observed among the three tribal groups at several loci (ABO, RH, P, ADA, PGM, ACP, ESD, PGD, GPT, HP, C3, and BF). Pairwise comparisons also showed significant genetic differences between the Koya and the Chenchu at seven loci, between the Koya and the Lambadi at nine loci, and between the Chenchu and the Lambadi at seven loci. Gene differentiation among the three tribes was sufficient to allow an overall excess of heterozygosity. The FIS estimates of each tribe showed positive values, but a great number of alleles showed negative FIS values, supporting varying degrees of gene flow and admixture with neighboring populations. The genetic differentiation and affinity of 14 tribal populations of Andhra Pradesh were further examined using published and unpublished data on 11 polymorphic genetic systems. Despite the genetic distinctions between two Chenchu samples and Koya and Koya-related tribes (Koya Dora and Konda Dora), geographic proximity seems to be an important determinant of affinity of the tribal populations of Andhra Pradesh. The extent of genetic diversity is high compared with previous reports from this state. No evidence from the present data indicates that selection had any appreciable effect on local differentiation, but the present analysis suggests that differences are more likely to be maintained by genetic drift, admixture, and inbreeding.

Ethnicity↗

PubMed1996

Variability of genetic markers in Himachal Pradesh, India: variation among the subpopulations.

The genetic composition of one tribal and two nontribal populations of the Chamba District, Himachal Pradesh, India, was studied by phenotype analyses of 25 genetic markers (9 blood groups, 13 red cell enzymes, and 3 serum proteins). Furthermore, the genetic structure of 11 populations from 3 districts, Chamba, Kangra, and Kinnaur of Himachal Pradesh, was also analyzed using data from 20 loci (57 alleles). Nine genetic systems (ABO, Rh, FY, P, PGM, ACP, AK, PGD, and HP) showed highly significant heterogeneity in the five populations of Kinnaur District, whereas among the six populations from Chamba and Kangra districts the genetic variation was low. The FIS value at each locus for the five populations of Kinnaur District and the six populations from Chambra and Kangra districts was consistently higher than the FST estimates, suggesting that the population structure of both regions is influenced by local random inbreeding. Although the role of selection in local genetic differentiation cannot be ruled out, the present analyses indicate that local differentiation is mainly affected by geographic proximity, random inbreeding, and admixture.

Ethnicity↗

PubMed1996

Genetic variation in Sri Lanka.

A population genetic study was designed to analyze genetic composition and population structure of the five main population groups (Sinhalese, Tamils, Moors, Burghers, and Malays) of Sri Lanka. Twentyseven polymorphic and three monomorphic loci were examined in all five populations. Several genetic markers, including subtype variation of HP, TF, PI, GC, ORM, and PGM1, were analyzed for the first time and helped to clarify the range of genetic variation for Sri Lankan populations. Many genetic systems (Rh, JK, ACP, ESD, HP, C3, TF, and GC) showed a high level of variation among the populations of Sri Lanka. However, at the individual level the Burgher population (a hybrid group between the Dutch and Portuguese and the local Sinhalese) showed European features, but its gene frequencies were either intermediate to its parental populations or more similar to the local Sinhalese. In the F statistic analysis all populations showed positive FIS values, ranging from 0.0305 in the Burghers to 0.1084 in the Malays; however, for a large number of loci the FIS values for the Burghers were negative, indicating the possible hybrid nature of this population. In genetic affinity studies the Burghers, Moors, and Malays showed a greater degree of isolation, but compared with the possible populations of their origin, the five populations of Sri Lanka tended to show some degree of affinity to each other. Our analysis therefore suggests that there is little evidence of disruptive selection; however, restricted gene flow favors the change of allele frequency toward the local Sinhalese and Tamil populations.

Ethnicity↗

PubMed1996

Restriction fragment length polymorphism of HLA-DR and HLA-DQ allotypes in four endogamous groups of western India.

HLA-DR and HLA-DQ allele frequencies in four populations (Brahmin, Maratha, Gujarati Hindu Patel, and Parsi) of Bombay, western India, were analyzed using TaqI RFLPs detected by the cDNA probes DRB, DQB, and DQA. Although the overall differences in the HLA-DR and HLA-DQ genotype frequencies among the populations were not statistically significant, several population-specific haplotypes were significant. Multivariate analyses using data on 2 loci (HLA-DR and HLA-DQ) produced a meaningful pattern of genetic affinity and differentiation that parallels the analysis made when frequency data on 23 loci (21 blood group and protein loci and 2 class II antigen loci) are used. The RST for class II loci was 0.006; the genetic differentiation increased to 0.01 when data on 23 polymorphic loci were analyzed. The genetic affinity analysis shows the isolated nature of the Parsi and close genetic affinity between the two local populations of Bombay. Although the RFLP technique has several limitations compared with newly defined PCR-based methods, our analysis shows that the RFLP technique is still a useful adjunct method for studying HLA polymorphisms for which only limited data from the populations of the Indian subcontinent are available.

Consanguinity↗

PubMed1996

New rare variants and interpretation of the genetic diversity at the group-specific component (GC) locus in populations of India.

As part of our ongoing genetic studies, 2635 samples from 30 populations of the Indian subcontinent have been analyzed for GC subtype variation. Several rare variants were found and have been characterized using isoelectric focusing in 3 M urea and with an immobilized pH gradient and by comparison with known standards. Six new variants, 1A33, 2A22, 2A23, 2A24, 1C56, and 1C59, have been discovered in geographically and ethnically distant populations of the Indian subcontinent. Variants 1C11 and 1C21 have been reported previously in the French population and variant 1C36 has been reported in Nepalis, but all three variants were observed for the first time in the populations of India. The distribution of the rare variants in the Indian subcontinent was examined for anthropological usefulness for differentiation of Indian populations. The data for GC allele frequencies from 144 populations of India were compared for geographic and ethnic variation. A high frequency of the GC*IF allele was observed in populations of eastern India, and various ethnic groups from the eastern zone were clearly differentiated from similar ethnic populations from the rest of India. GC*2 allele frequency data were further correlated with various geographic and climatic variables, such as longitude, latitude, sunshine, solar radiation, and mean annual temperature. A significant positive correlation between GC*2 frequency and latitude was observed. The GC*2 allele frequency showed a cline increasing from south to north. Significant negative correlation was also observed between GC*2 frequency and sunshine, solar radiation, and mean temperature. A possible interpretation for selection of the GC*2 allele in areas with low levels of insolation is provided.

Climate↗

PubMed1996

Population genetic study of three VNTR loci (D2S44, D7S22, and D12S11) in five ethnically defined populations of the Indian subcontinent.

Using RFLP (restriction fragment length polymorphism) analysis, we have characterized the genotypic variation of three VNTR (variable number of tandem repeat) loci (D2S44, D7S22, and D12S11) with probes YNH24, g3, and MS43a, respectively, for 288 individuals from 5 genetically well-defined ethnic groups (Brahmins, Maratha, Gujarati Patel, Sinhalese, and Moors) of the Indian subcontinent. The distributions of VNTR alleles at the binned level were examined among the five populations, and the genetic affinities obtained using the VNTR data were compared with serogenetic data on 22 blood group and protein loci previously reported from our laboratory. For classical genetic markers the Sinhalese show slight affinity with the populations of western India. However, the genetic affinity results considerably parallel the results for VNTR loci and 25 combined VNTR/blood group/protein loci, suggesting that the Sinhalese show the least affinity with the populations of western India. These results confirm the findings of a recent study of genetic relationships of the populations of Sri Lanka based on admixture analysis. The concerns regarding whether or not the pattern of genetic variation of VNTR loci at the bin level can be studied using classical population principles are addressed.

Ethnicity↗

PubMed1995

Genetic variation of serum proteins (GC, TF and PI subtypes) in the Baigas of Madhya Pradesh, India.

The distribution of group specific component (GC), transferrin (TF) and alpha-1-antitrypsin (PI) subtypes was determined by isoelectric focusing of plasma samples from 140 unrelated individuals belonging to the Baiga tribe of Madhya Pradesh, India. The allele frequencies observed for GC (GC*1S = 0.6742, GC*1F = 0.1326 and GC*2 = 0.1932), TF (TF*C1 = 0.7920, TF*C2 = 0.1606, TF*C3 = 0.0146 and TF*D = 0.0328) and PI (PI*M1 = 0.7179, PI*M2 = 0.1750, PI*M3 = 0.0893, PI*S = 0.0107 and PI*F = 0.0071) demonstrate appreciable heterogeneity of the Baigas compared to other populations of the region.

Alleles↗

PubMed1994

Haptoglobin subtypes in the East Midlands (United Kingdom).

Haptoglobin subtypes were analysed by isoelectric focusing (IEF) in 5 regional populations from the East Midlands (United Kingdom). The allele frequencies showed a considerable variation at regional level. Allelic frequency ranges were HP*1S = 24-28%, HP*1F = 11-15%, HP*2FS 54-63%, HP*2SS = 0.5-6% and HP*2FF 0-1%. The data presented here suggest that HP subtypes provide a useful genetic marker for population studies and paternity testing.

Alleles↗

PubMed1994

Distribution of group specific component (GC) and transferrin (TF) subtypes in populations of Sri Lanka.

A random sample of 503 individuals from five endogamous groups of Sri Lanka was studied for the genetic polymorphism of the group specific component (GC) and transferrin (TF) using isoelectric focusing. Both systems showed statistically significant heterogeneity among the five main populations of the island. The GC allele frequencies of Malays are significantly different from those of the other four populations (Sinhalese, Tamils, Moors and Burghers). However, the TF system shows less variation, since only the Moors show a significant heterogeneity compared to Tamils and Burghers. The frequencies found in the present study are very different from those reported for the populations of the Indian mainland.

Alleles↗

PubMed1993

Genetic polymorphism of orosomucoid (ORM) in populations of the United Kingdom, Indian subcontinent, and Cambodia.

The genetic variation of the human serum orosomucoid (ORM) was investigated by isoelectric focusing (IEF) followed by immunofixation in 15 different populations from East Midlands (United Kingdom), India, Sri Lanka, and Cambodia. Statistically significant differences were observed between various Asiatic and British populations, however differences within Asiatic and European populations were minor. The distribution of ORM1 alleles in populations investigated to date suggests an interesting east-west geographical cline. There is a suggestion that present day wide polymorphism at the ORM1 locus may be influenced by selection.

Alleles↗