TPMT Gene Polymorphisms: On the Doorstep of Personalized Medicine (Commentary)

TPMT Gene Polymorphisms: On the Doorstep of Personalized Medicine (Commentary)

Since the initial human genome sequence has become available in 2001, sequence variability among individual genomes came into focus of the research in the field of human genetics. More than 99 per cent of the DNA sequence is identical among individuals. The remaining DNA is responsible for genetic diversity (1). Polymorphisms are common genetic variations […]

Possible Aggravating Impact of Gene Polymorphism in Women with Endometriosis (Report)

Possible Aggravating Impact of Gene Polymorphism in Women with Endometriosis (Report)

Background & objectives: Endometriosis is one of the most commonly encountered benign problems in gynaecology. It is frequently associated with chronic pelvic pain, dysmenorrhoea, menorrhagia and dyspareunia, which lead to infertility. To determine the possible association between polychlorinated biphenyls (PCBs) and GSTM1 null (*0/*0) mutation and their possible impact in the pathogenesis of endometriosis. Methods: […]

Association of Serotonin Transporter Gene Polymorphisms with Obsessive-Compulsive Disorder (OCD) in a South Indian Population (Report)

Association of Serotonin Transporter Gene Polymorphisms with Obsessive-Compulsive Disorder (OCD) in a South Indian Population (Report)

Obsessive compulsive disorder (OCD) is the fourth most prevalent psychiatric disorder with a lifetime prevalence of 2-3 per cent (1). It is often a chronic illness characterized by obsessional thoughts and/or compulsive acts (2). Although OCD is often considered a unitary disorder, there is evidence that it is a heterogeneous disorder (3). Juvenile OCD and […]

Association of Gene Polymorphisms with Development of Cancer Risk Or Their Protective Role Associated with Some Mutant Alleles (Commentary)

Association of Gene Polymorphisms with Development of Cancer Risk Or Their Protective Role Associated with Some Mutant Alleles (Commentary)

Over the past decade, due to the advent of human genome project and its overwhelming success, there has been a great deal of interest in defining genetic polymorphisms and finding their associations with development of disease risks. However, to keep a consistent and balanced growth in this arena, one needs to have an in-depth knowledge […]

Report of a Recurrent Mutation in ARS (Component B) Gene with Severe Mal de Meleda in a Large Consanguineous Pakistani Family (Clinical Report)

Report of a Recurrent Mutation in ARS (Component B) Gene with Severe Mal de Meleda in a Large Consanguineous Pakistani Family (Clinical Report)

Byline: Sadia Nawaz, Muhammad Tariq, Aysha Azhar, Mahmood Rasool, Syeda Marriam Bakhtiar, Ilyas Ahmad, Shoaib ur Rehman, Muhammad Jameel, Tahir Naeem Khan, Shehla Anjum Baig, Joakim Klar, Niklas Dahl and Shahid Mahmood Baig Abstract:

DNA Sequencing by Microseq Kit Targeting 16S Rrna Gene for Species Level Identification of Mycobacteria (Report)

DNA Sequencing by Microseq Kit Targeting 16S Rrna Gene for Species Level Identification of Mycobacteria (Report)

Background & objectives: Identification of mycobacteria to the species level is of therapeutic significance. Conventional methods are laborious and time consuming so we did 16S rRNA sequencing using a commercial MicroSeq sequencing kit, which includes DNA sequencing with software package for identification and phylogenetic analysis of clinical mycobacterial isolates. Methods: A total of 47 mycobacteria […]