Umayal Srimyooran Branavan

University of Colombo

High-resolution melt (HRM) analysis is a closed-tube technique for detecting single nucleotide polymorphisms (SNPs). However, it has limited use in high-resolution melting devices, even those with high thermal accuracy (HTA). In addition to the cost of switching to these specialized devices, the presence of nearest neighbour neutral changes (class...

Introduction: Polycystic ovary syndrome (PCOS) is the multigenic, endocrine disorder of young women. Inheritance of PCOS is likely to be oligogenic and genetic basis remains largely unknown. Screening the candidate genes of PCOS and their SNPs individually is time consuming. Hence, developing a tool that would help in screening multiple candidate g...

Polycystic ovary syndrome (PCOS) is a multigenic disorder and screening the candidate genes of PCOS and their SNPs individually is time consuming. Hence, we developed a genetic screening tool that would help in screening multiple candidate genes simultaneously to determine the possible genetic causes of PCOS. For this, 16 single nucleotide polymorp...

Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder of young women with long-term metabolic risk and prevalence among pre-marital Sri Lankan women is 6.3%. Inheritance of PCOS is likely to be oilgogenic; the genetic basis remaining largely unknown in view of the complex pathophysiology. The genetics of expression of PCOS requires a...

Introduction: Polycystic ovary syndrome (PCOS) is a multigenic, endocrine disorder of young women. Inheritance of PCOS is likely to be oligogenic and genetic basis remains largely unknown. The genetics of PCOS requires an in-depth study, particularly among Sri Lankan women who have a greater metabolic risk from an early age. Screening the SNPs of P...

Schizophrenia is a major psychiatric illness causing high morbidity and mortality and has a relatively high heritability. The Neuregulin-1 (NRG1) gene on chromosome 8, codes for neuregulin. Neuregulins are a group of epidermal growth factor like proteins. Genetic variations in NRG1 have been shown to be associated with schizophrenia in several comm...

Background: PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic derangement in PCOS. We previously identified FTO (rs9939609) as a susceptibility locus for PCOS among Sri Lankan women and also e...

Background: PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic derangement in PCOS. We previously identified FTO (rs9939609) as a susceptibility locus for PCOS among Sri Lankan women and also ex...

Background: PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic derangement in PCOS. We previously identified FTO (rs9939609) as a susceptibility locus for PCOS among Sri Lankan women and also ex...

Competitive amplification of differently melting amplicons (CADMA) is a Real-time quantitative polymerase chain reaction (qPCR) technique based on high resolution melt (HRM) analysis to identify different SNP genotypes which could also be determined using the Ct values in the allele specific qPCR (AS-qPCR). Amplification refractory mutation system...

Background: PCOS is a common disorder of women due to genetic, endocrine and environmental effects that manifests from puberty. The rs9939609 variant of fat mass and obesity associated (FTO) gene is linked to metabolic derangement in PCOS. We previously identified FTO (rs9939609) as a susceptibility locus for PCOS among Sri Lankan women and also ex...

Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder affecting women of reproductive age. Its aetiology, though yet unclear, is presumed to have an oligogenic basis interacting with environmental factors. Kisspeptins are peptide products of Kiss1 gene that control the hypothalamic pituitary (HPG) axis by acting via G protein-coupled...

Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder, present in 5-13% women of reproductive age. The endocrine manifestations of PCOS include excess androgen production of ovarian and/or adrenal origin and arrested follicular development leading to chronic oligo- or anovulation. Long term health risks of women with PCOS include cardiova...

Background Polycystic ovary syndrome (PCOS), the commonest endocrine disorder affecting young women, appears to be a multigenic trait with contributing genes being unclear. Hence, analysis of polymorphisms in multiple candidate genes is required. Currently available genotyping methods are expensive, time-consuming with limited analytical sensitivit...

Genotyping of FTO (rs9939609) polymorphism by TaqMan assay and Tetra ARMS-PCR. Allelic discrimination plot of FTO (rs9939609) polymorphism by TaqMan assay and detection of rs9939609 gene polymorphism by Tetra ARMS-PCR (PCR products on 2% agarose gel). (DOCX)

Primer details and PCR conditions for Tetra ARMS PCR of FTO rs9939609 polymorphism. (DOCX)

Genotyping of GnRH1 and LHB polymorphism by AS-qPCR. Amplification plot of GnRH1 and LHB genes single nucleotide polymorphisms. (DOCX)

Genotype results of the study population. Genotype data of the cases and controls. (XLSX)

Demographic and clinical characteristic of study population. Demographic, clinical and hormonal data of the cases and controls. (XLSX)

Introduction and objective: Genotyping of Single Nucleotide Polymorphisms (SNPs) is an important step that could help the clinician in the area of pharmacogenomics to prescribe the right dose of the right medicine to the right patient at the right time. Since the cost of performing qPCR assays are high laboratories using end-point PCR techniques t...

PCOS is an oligogenic endocrine disorder of young women with prevalence between 5-10%. This study aimed to: (i) Determine single nucleotide polymorphisms (SNPs) of selected candidate genes of PCOS. (ii) Identify the association of these polymorphisms with PCOS. Methods: DNA was extracted from consenting women with well-characterized PCOS manifesti...

Context: Polycystic ovary syndrome (PCOS) is the commonest endocrine disorder affecting young women. Kisspeptins are a family of closely related peptides encoded by Kiss1 gene that controls the hypothalamic-pituitary-gonadal axis by binding to its receptor (GPR54) expressed in gonadotropin-releasing hormone (GnRH) neurons and releases GnRH. Since...

HRM Assay Design Tool and Automated ARMS-PCR Assay Design Tool available on snp.biotech.edu.lk for free access.

The SNP-Genotyping Assay Designer is a set of tools used to design tetra primer amplification refractory mutation system – Polymerase chain reaction (ARMS-PCR) based & High-resolution melt (HRM) based Single Nucleotide Polymorphism (SNP) genotyping assays. They provide a more convenient and easier to use technique to design an assay for both end-po...

There is a growing demand for rapid and reliable genotyping of clinical samples. High resolution melting (HRM) analysis is a post-PCR analytical method available to identify variations of nucleic acid sequences. HRM technology characterizes nucleic acid samples based on their disassociation behavior and detects small differences in PCR amplified se...

There is a growing demand for rapid and reliable genotyping of clinical samples. High resolution melting (HRM) analysis is a post-PCR analytical method available to identify variations of nucleic acid sequences. HRM technology characterizes nucleic acid samples based on their disassociation behavior and detects small differences in PCR amplified se...

Objective: to study the association of FTO gene rs9939609 variant in Sri Lankan women with PCOS. Method: Consecutive women with PCOS (n=55) and controls (n=110) were recruited. Clinical parameters, anthropometry and biochemistry were measured in all. DNA was extracted and tetra ARMS PCR was carried out for genotyping. The association between rs9939...

Modified Bristol and Blessed ADL scales. questionnaires of modified Bristol and Blessed ADL scales.

Cognitive tests have been used in population surveys as first stage screens for dementia but are biased by education. However functional ability scales are less biased by education than the cognitive scale and thus can be used in screening for dementia. To validate Activities of Daily Living (ADL) scale appropriate for use in assessing the presence...

Geriatric Depression Scale (GDS) has not been validated for the elderly population in Sri Lanka. To translate, validate, and examine the effectiveness of GDS and to suggest the optimal cut-off scores for elderly Sri Lankans attending a psychogeriatric clinic. The Sinhalese translation of GDS (GDS-S) was administered to people aged 55 years and abov...