Characterization of human immunodeficiency virus (HIV1C) variants in peripheral blood mononuclear cells and spermatozoa.

The presence of distinct viral variants in different cells and secretions of the same person influences the transmission of HIV as well as the response to the host defense and to therapy. Sperm-associated virus is also a risk factor for sexual transmission of HIV. Characterization of the C2-V3 region of HIV1C env gene by the Heteroduplex Mobility Assay (HMA) and sequencing demonstrated the presence of distinct variants in the peripheral blood mononuclear cells (PBMCs) and the sperm of the same individual (n = 6).

Obesity and polycystic ovary syndrome: association with androgens, leptin and its genotypes.

Obesity and hyperandrogenaemia are key features of polycystic ovary syndrome (PCOS). The aim of this study was to investigate whether leptin and androgens are associated with obesity in PCOS subjects and identify whether there exist any genetic alterations in leptin gene in women with PCOS. The results reveal that leptin levels are elevated in women with PCOS and associate with BMI.

Study of NAT2 gene polymorphisms in an Indian population: association with plasma isoniazid concentration in a cohort of tuberculosis patients.

Background And Objectives: Polymorphisms of the N-acetyltransferase 2 gene (NAT2) vary remarkably between populations of different ethnic origin. The NAT2 gene determines the individual's acetylator status to metabolize drugs and xenobiotics, influencing their toxicity and efficacy profiles. This study investigates the frequencies of the most commonly studied NAT2 polymorphisms in a southwestern Indian population and compares these with those reported in other Indian and world populations.

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods.

Background: Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and management of CAH patients. Here we report a novel 9-bp insertion in CYP21A2 gene and its structural and functional consequences on P450c21 protein by molecular modeling and molecular dynamics simulations methods.

CYP11A1 and CYP17 promoter polymorphisms associate with hyperandrogenemia in polycystic ovary syndrome.

Objective: To analyze promoter regions of CYP11A1 and CYP17 for putative variations in a defined group of women with polycystic ovary syndrome (PCOS) and to study their association with androgen levels.

Design: Retrospective study.

Setting: A secondary referral center for infertility at National Institute for Research in Reproductive Health, Mumbai, India.