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Background: The phylogeny of the indigenous Indian-specific mitochondrial DNA (mtDNA) haplogroups have been determined and refined in previous reports. Similar to mtDNA superhaplogroups M and N, a profusion of reports are also available for superhaplogroup R. However, there is a dearth of information on South Asian subhaplogroups in particular, including R8. Therefore, we ought to access the genealogy and pre-historic expansion of haplogroup R8 which is considered one of the autochthonous lineages of South Asia. Methodology/Principal Findings: Upon screening the mtDNA of 5,836 individuals belonging to 104 distinct ethnic populations of the Indian subcontinent, we found 54 individuals with the HVS-I motif that defines the R8 haplogroup. Complete mtDNA sequencing of these 54 individuals revealed two deep-rooted subclades: R8a and R8b. Furthermore, these subclades split into several fine subclades. An isofrequency contour map detected the highest frequency of R8 in the state of Orissa. Spearman's rank correlation analysis suggests significant correlation of R8 occurrence with geography. Conclusions/Significance: The coalescent age of newly-characterized subclades of R8, R8a (15.4±7.2 Kya) and R8b (25.7±10.2 Kya) indicates that the initial maternal colonization of this haplogroup occurred during the middle and upper Paleolithic period, roughly around 40 to 45 Kya. These results signify that the southern part of Orissa currently inhabited by Munda speakers is likely the origin of these autochthonous maternal deep-rooted haplogroups. Our high-resolution study on the genesis of R8 haplogroup provides ample evidence of its deep-rooted ancestry among the Orissa (Austro-Asiatic) tribes. [ABSTRACT FROM AUTHOR]

Background & objectives: Lack of awareness is one of the major reasons for the high morbidity and mortality associated with cancers. The present study was aimed to evaluate the awareness of prevalent cancers among the rural population in a district of north India and its association specifically with mobile phone usage. Methods: Using a stratified random sampling technique, households in three villages of Gautam Buddh Nagar district of India were selected. A house-to-house survey on cancer awareness was conducted among adults in selected households and data were analyzed to check for the association of such an awareness with sociodemographic factors and internet usage. Results: The study included 59 males and 145 females, with majority (115) being in the age group of 18-30 yr. Although most (96.5%) of the participants were aware of cancer, the common risk factors and warning signs of cancer were known to only a few. Specific risk factors for cervical and breast cancers were, however, not known to a majority (79.9% and 72.2%). A significant association between the awareness of general risk factors and warning signs as well as specific aspects including risk factors for breast, cervical and oral cancer, HPV vaccine and the education level of the participants (P<0.05 for all). Knowledge of risk factors, warning signs and cancer prevention modalities was higher among mobile phone users who accessed internet for health information. There was no significant association between age group and cancer risk factor awareness, though females were more aware of the risk factors for breast cancer (P=0.002). Interpretation & conclusions: The findings of this study highlight the existing low level of awareness of cervical and breast cancers among the rural population. The association of cancer awareness with education level and mobile phone-based internet usage suggests the potential utility of internet-based platforms such as m-health programmes for cancer prevention activities. [ABSTRACT FROM AUTHOR]

The northern region of the Indian subcontinent is a vast landscape interlaced by diverse ecologies, for example, the Gangetic Plain and the Himalayas. A great number of ethnic groups are found there, displaying a multitude of languages and cultures. The Tharu is one of the largest and most linguistically diverse of such groups, scattered across the Tarai region of Nepal and bordering Indian states. Their origins are uncertain. Hypotheses have been advanced postulating shared ancestry with Austroasiatic, or Tibeto-Burman-speaking populations as well as aboriginal roots in the Tarai. Several Tharu groups speak a variety of Indo-Aryan languages, but have traditionally been described by ethnographers as representing East Asian phenotype. Their ancestry and intra-population diversity has previously been tested only for haploid (mitochondrial DNA and Y-chromosome) markers in a small portion of the population. This study presents the first systematic genetic survey of the Tharu from both Nepal and two Indian states of Uttarakhand and Uttar Pradesh, using genome-wide SNPs and haploid markers. We show that the Tharu have dual genetic ancestry as up to one-half of their gene pool is of East Asian origin. Within the South Asian proportion of the Tharu genetic ancestry, we see vestiges of their common origin in the north of the South Asian Subcontinent manifested by mitochondrial DNA haplogroup M43.

The dopamine transporter (DAT1) is a membrane spanning protein that binds the neurotransmitter dopamine and performs re-uptake of dopamine from the synapse into a neuron. The gene encoding DAT1 consists of 15 exons spanning 60 kb on chromosome 5p15.32. Several studies have investigated the possible associations between variants in DAT1 gene and psychiatric disorders. The present study aimed to determine the distribution of the variable number of tandem repeat (VNTR) polymorphism in the 3' untranslated region of DAT1 in 12 Indian populations. A total of 471 healthy unrelated individuals in 12 Indian populations from 3 linguistic groups were included in the present study. The analysis was carried out using PCR and electrophoresis. Overall, 4 alleles of the DAT1 40-bp VNTR, ranging from 7 to 11 repeats were detected. Heterozygosity indices were low and varied from 0.114 to 0.406. The results demonstrate the variability of the DAT1 40-bp VNTR polymorphism in Indian populations and revealed a high similarity with East Asian populations.