An 18 mer sequence in a rat 1.3 kbp EcoRI repeat detects genetic polymorphism in humans

DNA fingerprinting involves the typing of an individual's DNA content to produce somatically stable,individual-specific DNA fingerprints. This technique often uses hypervariable minisatellite (HVMS) sequences as the fingerprinting probe and has found extensive use in several disciplines. Recently, we sequenced a 1.3 kbp EcoRI repetitive DNA fragment, shown to harbour the meiotic DNA repair site(s) of rat pachytene spermatocytes. This 1.3 kbp clone contained four sequences sharing high homology to the various HVMS sequences reported in the literature. Here we show that one of the sequences can indeed detect polymorphism in human individuals and can be used for DNA fingerprinting

Role of parental folate pathway single nucleotide polymorphisms in altering the susceptibility to neural tube defects in South India

Aim: To investigate the role of four parental folate pathway single nucleotide polymorphisms (SNPs) i.e., methylene tetrahydrofolate reductase (MTHFR) 677C>T, MTHFR 1298A>C, methionine synthase reductase (MTRR) 66A>G and glutamate carboxypeptidase (GCP) II 1561C>T on susceptibility to neural tube defects (NTDs) in 50 couples with NTD offspring and 80 couples with normal pregnancy outcome. Results: Maternal MTHFR 677C→T (odds ratio (OR): 2.69, 95% confidence interval (CI): 1.35–5.34) and parental GCP II 1561C→T (maternal: OR: 1.89, 95% CI: 1.12–3.21 and paternal: OR: 3.23, 95% CI: 1.76–5.93) were found to be risk factors for a NTD. Both paternal and maternal GCP II T-variant alleles were found to interact with MTHFR 677T- and MTRR G-variant alleles in increasing the risk for NTD. Segregation of data based on type of defect revealed an association between maternal 677T-allele and meningomyelocele (OR: 9.00, 95% CI: 3.77–21.55, P<0.0001) and an association between parental GCP II 1561T-allele and anencephaly (maternal: OR: 2.25, 95% CI: 1.12–4.50, P<0.05 and paternal: OR: 4.26, 95% CI: 2.01–9.09, P<0.001). Conclusions: Maternal MTHFR C677T and parental GCP II C1561T polymorphisms are associated with increased risk for NTDs. Apart from individual genetic effects, epistatic interactions were also observed.Peer Reviewe

Inbreeding in the State of Karnataka, South India

The inbreeding patterns and coefficient of inbreeding (F) of 3,350 new-borns in Bangalore, Karnataka were determined. A total of 29.24% were born of consanguineous marriages, F = 0.02313. Inbreeding was most common among the Hindus: 23.56% of their marriages were uncle-niece, F for the group was 0.02670

Inbreeding in the state of Karnataka, South India

The inbreeding patterns and coefficient of inbreeding (F) of 3,350 new-borns in Bangalore, Karnataka were determined. A total of 29.24% were born of consanguineous marriages, F = 0.02313. Inbreeding was most common among the Hindus: 23.56% of their marriages were uncle-niece, F for the group was 0.02670

Inbreeding and the incidence of recessive disorders in the populations of Karnataka, South India

No abstract availabl

An 18 mer sequence in a rat 1.3 kbp EcoRI repeat detects genetic polymorphism in humans

DNA fingerprinting involves the typing of an individual's DNA content to produce somatically stable,individual-specific DNA fingerprints. This technique often uses hypervariable minisatellite (HVMS) sequences as the fingerprinting probe and has found extensive use in several disciplines. Recently, we sequenced a 1.3 kbp EcoRI repetitive DNA fragment, shown to harbour the meiotic DNA repair site(s) of rat pachytene spermatocytes. This 1.3 kbp clone contained four sequences sharing high homology to the various HVMS sequences reported in the literature. Here we show th'at one of the sequences can indeed detect polymorphism in human individuals and can be used for DNA fingerprinting

Consanguinity, twinning and secondary sex ratio in the population of Karnataka, South India

Consanguineous marriages are strongly favoured in the state of Karnataka. Of 65492 marriages studied 33·07% were consanguineous, equivalent to a coefficient of inbreeding (F) of 0·0298. The twinning rate was low, 6·9 per thousand, whereas the secondary sex ratio, 0·5221, was higher than in comparable major human populations. Consanguinity exerted no significant effect on either parameter. The results also indicate that consanguinity is not associated with excess antenatal losses and suggest the possibility of enhanced selection against mutations at X chromosome loci

Relation between Glasgow outcome score extended (GOSE) and the EQ-5D health status questionnaire after head injury

The degree of consanguinity of the progeny, the number of live-borns and number of living children were determined in 3350 marriages in Bangalore, Karnataka. The coefficient of inbreeding (F) was 0.02308, higher than in comparable, urban populations in other South Indian states. No significant differences were found between the consanguineous and non-consanguineous groups in numbers of live-born or living children nor was there any consanguinity-related trend with respect to these parameters

Development and Validation of New Rp-Hplc Method for The Simultaneous Estimation of Lamivudine, Tenofovir and Doravirine in Pharmaceutical Dosage Form

A simple, accurate, and precise quantitative approach for the simultaneous quantification of Lamivudine, Tenofovir, and Doravarine in pharmaceutical dose form was developed. The chromatogram was performed on an Inertsil C18, 150 * 4.6mm, 5µm column with a mobile phase containing 0.1% orthophosphoric acid and Acetonitrile in a 50:50 v/v ratio that was pumped through the column at a flow rate of 1ml/min. The temperature was kept at 30°C. The optimal wavelength was 230.0 nm. Lamivudine, Tenofovir, and Doravarine had retention times of 2.238, 2.623, and 3.088 minutes, respectively. For three medications evaluated, the % RSD of system precision and method precision was determined to be less than 2%. The mean % recovery for Lamivudine, Tenofovir, and Doravarine was 101.32 percent, 99.94 %, and 100.61 %, respectively. The method was found to be simple, accurate, sensitive,cost effective and can be useful in routine quality control analysis