Genetic dissection of five ethnic groups from Punjab, North-West India-A study based on Autosomal Markers.

The present study assessed the applicability of Alu insertion elements and Single Nucleotide Polymorphisms (SNPs) in forensic identification and estimated the extent of genetic variation in five major ethnic groups of Punjab, North-West India. A total of 1012 unrelated samples belonging to Banias, Brahmins, Jat Sikhs, Khatris and Scheduled Castes were genotyped for four Alu elements (ACE, APO, PLAT, D1) and six Single Nucleotide Polymorphisms [ESR (PvuII), LPL (PvuII), HTR2A (MspI), DRD2 Taq1A, Taq1B, Taq1D]. Allele frequencies observed heterozygosity and forensic efficacy parameters were determined. The data on the genetic affinity of the studied populations among themselves and with other populations of India was also analysed using a Neighbor-Joining tree and multidimensional scaling plot respectively. All the 10 loci were polymorphic and their average observed heterozygosity ranged from 0.3872 (Banias) to 0.4311 (Scheduled Castes). Allele frequency variation at the 9 out of 10 loci led to statistically significant pairwise differences among the five study population groups. The result from AMOVA, Structure analysis, and Phylogenetic tree suggests that these populations are homogenous. In the multidimensional scaling plot, the present study populations formed a compact cluster clearly separated from other populations, suggesting a unique genetic identity of the Punjab populations as a whole. All these observations suggest that either a recent common origin of these populations or extensive gene flow across the populations that dissolve the original genetic differences. The data generated in this study will be useful for forensic genetics, molecular anthropological and demographic studies.

Morphology and age-related changes in calcospherites of human teeth: an ultrastructural study.

BACKGROUND: Dentine has been examined extensively for age-related physiological changes, but there are limited data on age-related changes at ultrastructural level of dentine. AIM: The present study aimed to examine age-related ultrastructural changes in calcospherites of human dentine under the scanning electron microscope. MATERIALS AND METHODS: Thirty single rooted teeth of North Western adult Indians (18-75 years) were collected from the Department of Oral Health Sciences, PGIMER, Chandigarh. Labiolingual sections were prepared and morphology of calcospherites was studied at different locations (coronal, cervical, midroot and apical) of the tooth. RESULTS: Morphologically, four types (I [small, unfused and discrete], II [partially fused and globular], III [large, completely fused] and IV [structureless]) of calcospherites were seen in the sample. With advancing age, type I calcospherites approached neighbouring crystals and changed their form to type II, which ultimately coalesced and transformed to type III. Results revealed that among different age groups (young, middle and old), calcospherites of only type I, II and III showed statistically significant differences in their shapes using Pearson's Chi-square test. Statistically non-significant differences were obtained in the shapes at different locations of the tooth. CONCLUSIONS: Results showed that calcospherites get fused as age advances. There is a change in the shape of calcospherites based on the location of the tooth.

Genetic differentiation and population structure of five ethnic groups of Punjab (North-West India).

The state of Punjab in the North-West part of India has acted as the main passage for all the major human invasions into the Indian subcontinent. It has resulted in the mixing of foreign gene pool into the local populations, which led to an extensive range of genetic diversity and has influenced the genetic structure of populations in Punjab, North-West India. The present study was conducted to examine the genetic structure, relationships, and extent of genetic differentiation in five Indo-European speaking ethnic groups of Punjab. A total of 1021 unrelated samples belonging to Banias, Brahmins, Jat Sikhs, Khatris, and Scheduled castes were analyzed for four human-specific Ins/Del polymorphic loci (ACE, APO, PLAT, and D1) and three restriction fragment length polymorphisms ESR (PvuII), LPL (PvuII), and T2 (MspI) using Polymerase chain reaction (PCR). All the loci were found to be polymorphic among the studied populations. The frequency of the Alu insertion at APO locus was observed to exhibit the highest value (82.6-96.3 %), whereas D1 exhibited the lowest (26.5-45.6 %) among all the ethnic groups. The average heterozygosity among the studied populations ranged from 0.3816 in Banias to 0.4163 in Khatris. The FST values ranged from 0.0418 to 0.0033 for the PLAT and LPL loci, respectively, with an average value being 0.0166. Phylogenetic analysis revealed that Banias and Khatris are genetically closest to each other. The Jat Sikhs are genetically close to Brahmins and are distant from the Banias. The Jat Sikhs, Banias, Brahmins, and Khatris are genetically very distant from the Scheduled castes. Overall, Uniform allele frequency distribution patterns, high average heterozygosity values, and a small degree of genetic differentiation in this study suggest a genetic proximity among the selected populations. A low level of genetic differentiation was observed in the studied population groups indicating that genetic drift might have been small or negligible in shaping the genetic structure of North-West Indian Populations.

Analysis of ANKKI (rs1800497) and DRD2 (rs1079597, rs1800498) variants in five ethnic groups from Punjab, North-West India.

Dopamine D2 receptor (DRD2) is one of the essential neurotransmitters in the brain studied extensively in the field of psychiatric disorders, alcoholic behaviors and Pharmacology. It is also a promising gene for studying the evolutionary and genetic variation among populations. The present study was an attempt to understand the extent of genetic variation among five different ethnic groups (Bania, Brahmin, Jat Sikh, Khatri and Scheduled caste) of Punjab (North West India). A total of 1012 individuals belonging to the above mentioned groups were analyzed for three TaqI Polymorphic loci of DRD2 and ankyrin repeat and kinase domain containing 1 (ANKKI) using the allele frequencies and haplotype frequency distribution pattern. All the three loci were found to be polymorphic among the studied populations. The average heterozygosity for all loci in these ethnic groups was fairly substantial ranging from 0.3936 to 0.4986. The genetic differentiation among the population was observed to be in order of 0.0053.Among of the eight studied haplotypes, only six were shared by all the ethnic groups. TaqID and TaqIB loci were reported to be in significantly higher linkage disequilibrium (LD) in Scheduled Caste only, whereas TaqIA and TaqID showed modest LD in Brahmin, Jat Sikh and Khatri. Multidimensional scaling analysis revealed that the studied ethnic groups formed a close cluster, suggesting similar genetic structure of these populations which are in close proximity with other Indo European speaking North Indian and western Indian population groups. Overall this study highlights the genomic uniformity among the ethnic groups of Punjab (North-West India) owing to their common ancestral history and geographical closeness.

Body composition and fat distribution among older Jat females: a rural-urban comparison.

The aim of the present cross-sectional study is to describe and compare age related changes in body composition and fat patterning among rural and urban Jat females of Haryana State, India. A total of 600 females (rural=300, urban=300), ranging in age from 40 to 70 years were selected by the purposive sampling method. Body weight, height, two circumferences (waist and hip) and skinfold thickness at five different sites (biceps, triceps, calf, subscapular, and supra-iliac) were taken on each participant. To study total adiposity, indices such as body mass index (BMI), grand mean thickness (GMT), total body fat and percentage fat were analyzed statistically. The fat distribution pattern was studied using waist/hip ratio, subscapular/triceps ratio and responsiveness of five skinfold sites towards accumulation of fat at different sites with advancing age. Results indicate a decline in almost every dimension including level of fatness between the mid-fourth and mid-fifth decades of life in both rural and urban females. Urban Jat females were heavier (57.36 kg vs. 56.07 kg, p>0.05) and significantly taller (1553.3mm vs. 1534.5mm, p<0.001) than their rural counterparts. Urban females also exhibited higher mean values for both the circumferences, five skinfold thicknesses as well as for lean body mass, total fat and percentage fat than the rural females. This is also evident from their higher mean values for body mass index and grand mean thickness. Waist/hip ratio values in rural and urban females showed upper body fat predominance, with urban females having relatively more abdominal fat. Results of subscapular/triceps ratio showed that rural and urban females gained proportionally similar amounts of subcutaneous fat at trunk and extremity sites until 45 years of age. Subsequently trunk skinfolds increased relatively more in thickness. The magnitude of this increase was comparatively greater in rural females up to 55 years and among urban females from 55 to 70 years. The profiles of subcutaneous fat accumulation and sensitivity of each skinfold site also revealed more fat deposition in the trunk region compared to extremities in both rural and urban females. The present study demonstrated differential rates of fat redistribution among rural and urban females.

The most ancient democracy in the world is a genetic isolate: an autosomal and Y-chromosome study of the hermit village of Malana (Himachal Pradesh, India).

Malana, a small village in Kullu District of Himachal Pradesh, India, has historically been considered a hermit village. Today it has a census size of 1,101 individuals. Geographic, linguistic, and population barriers have contributed to its seclusion. Little is known about the extent to which the population genetically differentiated during the years of isolation. To address this issue, we genotyped 48 Malani individuals at 15 highly polymorphic autosomal STR loci. We found that Malanis have lost some genetic variability compared with the present-day cosmopolitan caste populations and highly mobile pastoral cultures of India. But there is no evidence that they have gone through a severe bottleneck; the average population still shows a mean of 6.86 alleles per locus compared to a mean of 7.80-8.93 for nonisolated populations. An analysis of molecular variance (AMOVA) differentiates Malanis from the rest of the comparison populations. The population structure revealed by multidimensional scaling analysis of standard genetic distances lends support to the AMOVA. Our results are consistent with the social heterogeneity of the Malanis. We also analyzed 17 Y-chromosome STRs in 30 individuals to assess the paternal gene pool. The Malanis are characterized by a generally low Y-chromosome haplotype diversity. A network analysis indicates that two closely related haplotypes account for a large proportion of Malani Y chromosomes. We predicted Y-chromosome haplogroups and found that J2 and R1a were the most prevalent. Genetic drift and limited gene flow leading to reduced genetic diversity were important in determining the present genetic structure of the highly endogamous Malana village.

Growth trends in body, fat, circumferential and physiological traits during adolescence among Rajput females of Theog, Shimla District (Himachal Pradesh), India.

BACKGROUND: Information on growth status of a population is essential to establish the health status of the population and administer any health intervention programmes. AIMS: The study aimed to examine growth patterns in body, fat and physiological traits during adolescence in the light of various hypotheses and other studies. SUBJECTS AND METHODS: Cross-sectional data on a sample of 220 Rajput girls aged 11-17 years were collected from Theog tehsil, Shimla District in Himachal Pradesh. RESULTS: Mean body height and weight increased by 11% and 45.5%, respectively, from age 11 to 17 years. The first marked growth in height took place between 11 and 12 years, while the maximum annual increment was witnessed between 13 and 14 years. ANOVA revealed significant differences in anthropometric traits between various adolescent age groups. Waist-hip ratio (WHR) decreased from 0.77 at age 11 to 0.72 at age 17 years to attain gynoid pattern of body fat. Mean systolic and diastolic blood pressure increased from 106.92 and 66.48 mm Hg to 111.74 and 72.89 mm Hg, respectively. CONCLUSION: Although the girls in the present study did not suffer from any severe malnutrition, they had lower dimensions than their Western counterparts when they entered the adolescence phase and also later on. In contrast to height deficits, increase in weight deficits was greater. There is no indication of any compensatory or catch-up growth during adolescence. The present study does not support the hypothesis that lower nutritional stage during childhood affects the timing of adolescent take-off, age at peak height and weight velocity. The data lend support to the hypothesis of saltatory patterns with intervening periods of stasis. BMI, %fat and FM were significantly correlated with diastolic blood pressure but non-significantly correlated with systolic blood pressure.

A grey zone approach for evaluation of 15 short tandem repeat loci in sibship analysis: a pilot study in Indian subjects.

The evaluation of 15 STR loci Applied Biosystems Identifiler kit for sibship determination in Indian subjects is reported. Cumulative sibship indices (CSIs) calculated following standard methods in sibling pairs and non-sibling pairs, showed mean values comparable to other reports. Mean CSI value in sibling group was higher than in corresponding non-sibling group. Moderately high value of CSI in one of the non-sibling pairs and a very low likelihood ratio favoring non-relatedness in a known sibling pair did not allow binary decision about sibship status. To deal with this problem a grey zone approach has been applied to sibship test. It is concluded that the 15 loci STR kit can be reliably used for inferring sibship between pairs of individuals by defining a grey zone of a sibship test as an area of likelihood ratio values where the discriminatory performance is insufficient.