Sandor Proteomics Pvt Ltd

Hyderabad, India

Sandor Proteomics Pvt Ltd

Hyderabad, India
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Akella R.R.,Sandor Proteomics Pvt Ltd
Indian Journal of Endocrinology and Metabolism | Year: 2017

Background: Androgen insensitivity syndrome (AIS) is a rare X-linked disorder due to mutations in the androgen receptor (AR) gene causing end-organ resistance to the androgenic hormone. Subjects and Methods: Genetic studies were carried out in two families by karyotype and targeted exome sequencing of the AR gene. Results: Two novel missense mutations were identified, p.L822P and p.P392S, in two families with complete androgen insensitivity (CAIS) and partial androgen insensitivity (PAIS), respectively. Both had 46, XY karyotype. The mother was a heterozygous carrier in PAIS and negative in CAIS. These two were novel mutations, reported for the first time, in the AR gene. In silico analysis predicted that both mutations were damaging. We reviewed the various reported Indian mutations in the AR gene. Conclusion: AR gene mutations cause a wide spectrum of disorders from CAIS to male infertility or primary amenorrhea. Early diagnosis is essential for gender assignment and further management, family counseling, and prenatal diagnosis. © 2017 Indian Journal of Endocrinology and Metabolism | Published by Wolters Kluwer - Medknow.


Bashyam M.D.,DNA Diagnostics Center | Chaudhary A.K.,DNA Diagnostics Center | Reddy E.C.,DNA Diagnostics Center | Reddy E.C.,University of Würzburg | And 16 more authors.
British Journal of Dermatology | Year: 2012

Background Hypohidrotic/anhidrotic ectodermal dysplasia (HED) is a rare Mendelian disorder affecting ectodermal tissues. The disease is primarily caused by inactivation of any one of three genes, namely ectodysplasin A1 (EDA-A1), which encodes a ligand belonging to the tumour necrosis factor (TNF) superfamily; ectodysplasin A receptor (EDAR), encoding the EDA-A1 receptor and ectodysplasin A receptor-associated death domain (EDARADD), encoding an adaptor protein. X-linked recessive (EDA-A1), the predominant form of HED, as well as autosomal recessive and dominant (EDAR and EDARADD) inheritance patterns have been identified in affected families. Objectives To determine the common genes causing HED in India. Methods We performed mutation analysis on 26 HED families from India (including 30 patients). In addition, we carried out sequence and structural analysis of missense/nonsense and insertion/deletion mutations. Results Among the 26 families analysed, disease-causing EDAR mutations were identified in 12 (46%) while EDA-A1 mutations were detected in 11 (42%). Four novel mutations in EDAR and five in EDA-A1 were identified. More importantly, a possible founder EDAR mutation, namely c.1144G>A, was identified in five independent families, thus accounting for about one-fifth of affected families in whom mutation was detected. A majority of EDA-A1 mutations localized to the TNF-like domain while the location of EDAR mutations was more widespread. Conclusions This is the first report of a founder EDAR mutation and of a significantly high frequency of autosomal recessive HED. © 2011 The Authors. BJD © 2011 British Association of Dermatologists.


Padma G.,Osmania University | Swapna N.,Osmania University | Mamata M.,Osmania University | Charita B.,Sandor Proteomics Pvt Ltd | Padma T.,Osmania University
Clinical and Experimental Hypertension | Year: 2014

Introduction: AGT gene harbors several variants of which 21 are found to be in high linkage disequilibrium as per Hapmap database. Studies delineating the importance of these tagged SNPs are very limited and lacking from Indian population. In the present study, we evaluated the contribution of four tagged SNPs namely, g.6635G>A, g.6506G>A, g.12840G>A, and g.13828T>C at AGT locus along with the analyses of haplotype and epistatic interactions in causing susceptibility to essential hypertension (EHT). Methods: About 215 hypertensives and 230 normotensives were genotyped for selected tagged SNPs using PCR-RFLP method. Results: Significant association was obtained for g.6635G>A and g.6506G>A polymorphisms wherein GG homozygotes for both the markers were at risk for developing the condition. g.13828T>C polymorphism specially, female heterozygotes (TC) were found to be at increased risk for EHT. Haplotype GGGC was found to have a significant protective effect (p=0.0059). Markers g.6506G>A and g.12840G>A resulted in the creation of new enhancer sites thereby affecting splicing process. Conclusion: The present report is the first one in the literature showing general- and gender-specific association of g.6506G>A and g.13828T>C polymorphisms, respectively, with EHT. However, further studies for replication of present observations are warranted from other populations and other parts of India. © 2014 Informa Healthcare USA, Inc.


Bashyam M.D.,DNA Diagnostics Center | Chaudhary A.K.,DNA Diagnostics Center | Sinha M.,DNA Diagnostics Center | Nagarajaram H.A.,DNA Diagnostics Center | And 7 more authors.
Journal of Cellular Biochemistry | Year: 2012

Maple Syrup Urine Disease is a rare metabolic disorder caused by reduced/absent activity of the branched chain α-Ketoacid dehydrogenase enzyme complex. Mutations in BCKDHA, BCKDHB, and DBT, that encode important subunits of the enzyme complex namely E1α, E1β, and E2, are the primary cause for the disease. We have performed the first molecular genetic analysis of MSUD from India on nine patients exhibiting classical MSUD symptoms. BCKDHA and BCKDHB mutations were identified in four and five patients, respectively including seven novel mutations namely the BCKDHA c.1249delC, c.1312T>C, and c.1561T>A and the BCKDHB c.401T>A, c.548G>A, c.964A>G, and c.1065delT. The BCKDHB c.970C>T (p.R324X) mutation was shown to trigger nonsense mediated decay-based degradation of the transcript. Seven of the total 11 mutations resulted in perturbations in the E1α or E1β C-termini either through altered termination or through an amino acid change; these are expected to result in disruption of E1 enzyme complex assembly. Our study has therefore revealed that BCKDHA and BCKDHB mutations might be primarily responsible for MSUD in the Indian population. © 2012 Wiley Periodicals, Inc.


Naik A.,Sanjay Gandhi Post Graduate Institute of Medical Sciences | Goel A.,Sanjay Gandhi Post Graduate Institute of Medical Sciences | Agrawal V.,Sanjay Gandhi Post Graduate Institute of Medical Sciences | Sarangi A.N.,Sanjay Gandhi Post Graduate Institute of Medical Sciences | And 4 more authors.
World Journal of Gastroenterology | Year: 2015

Aim: To study host gene expression and number of immune cells in liver tissues from patients with fulminant hepatitis E (FH-E). Methods: Microarray-based expression profiling was done using Illumina Human WG-6-v3-BeadChip arrays on post-mortem liver tissue from 5 patients with FH-E, and compared with similar tissue from 6 patients with fulminant hepatitis B (FH-B; disease controls) and normal liver tissue from 6 persons. Differential expression was defined as ≥ 2.0-fold change with Benjamini-Hochberg false discovery rate below 0.05 using t-test in liver tissue from FH-B and FH-E, than healthy liver tissue. For some genes that showed differential expression in FH-E, microarray data were validated using quantitative reverse transcription PCR. Differentially expressed gene lists were then subjected to "Gene Ontology" analysis for biological processes, and pathway analysis using BioCarta database on the DAVID server. In addition, tissue sections were stained for CD4+, CD8+ and CD56+ cells using indirect immunohistochemistry; cells staining positive for each of these markers were counted and compared between groups. Results: Compared to normal livers, those from patients with FH-E and FH-B showed differential expression of 3377 entities (up-regulated 1703, downregulated 1674) and 2572 entities (up 1164, down 1408), respectively. This included 2142 (up 896, down 1246) entities that were common between the two sets; most of these belonged to metabolic, hemostatic and complement pathways, which are active in normal livers. Gene expression data from livers of patients with FH-E but not those of FH-B showed activation of several immune response pathways, particularly those involving cytotoxic T cells. The fold-change values of mRNA for selected genes in livers from FH-E than in normal liver tissue determined using quantitative reverse transcription PCR showed excellent concordance with microarray analysis. At immunohistochemistry, CD8+ T cells showed an increase in liver biopsies from both FH-E [median 53.4 per arbitrary unit area (range 31.2-99.9)] and FH-B [median 49.3 (19.3-51.0); P = 0.005] compared to control liver tissue [median 6.9 (3.1-14.9)]. Conclusion: FH-E patients show CD8+ T cell infiltration and increased gene expression of cytotoxic T cell pathways in liver, suggesting a possible pathogenetic role for these cells. © 2015 Baishideng Publishing Group Inc. All rights reserved.


Kotikalapudi R.,Sandor Proteomics Pvt. Ltd | Patel R.K.,Sandor Proteomics Pvt. Ltd | Katragadda S.,Sandor Proteomics Pvt. Ltd
Pakistan Journal of Biological Sciences | Year: 2013

The aim of the study is to standardize the simple method for extracting DNA from cells fixed in fixative (3:1 ratio of methanol and acetic acid glacial) mostly used for chromosomal studies in cattle and buffaloes. These fixed cells were stored for more than 6 months at refrigerated temperature. The fixed cells were washed 2-3 times by the ice cold 1x Phosphate Buffer Saline (PBS) with pH 7.4, so that effect of fixative may be eliminated. The genomic DNA was extracted by adding cell lysis and nucleus lysis buffers. The quality and quantity of DNA were estimated. The readings of nano drop and agarose gel electrophoresis indicate good quality DNA isolated with a rapid and simple protocol routinely using in our laboratory. The method enables us to study the DNA of a cattle and buffaloes after completing cytogenetic investigation or in cases where DNA samples are otherwise not available. This protocol may be useful for molecular analysis of DNA from fixed cells palettes. © 2013 Asian Network for Scientific Information.


Mukesh,Wildlife Institute of India | Mukesh,Kurukshetra University | Javed R.,Kurukshetra University | Javed R.,National Dairy Research Institute | And 3 more authors.
African Journal of Biotechnology | Year: 2011

We obtained blood samples of 57 Indian ducks (Anas platyrhynchos) belonging to three indigenous duck populations of geographically distinct locations of the country and genotyped them using chicken microsatellite markers. 23 of the 30 loci were amplified and 17 loci yielded high success rate (> 91%). Observed and effective number of alleles per locus should appear in place of number of alleles per locus (Na) and the effective number of alleles per locus (Ne) ranged from 4 to 21 and 1.80 to 13.34, respectively. The observed heterozygosity across populations ranged between 0.15 and 0.91, with mean (± SE) of 0.63 ± 0.21, while expected heterozygosity ranged 0.45 to 0.94 with mean (± SE) of 0.72 ± 0.13. The polymorphic information content (PIC) ranged from 0.43 to 0.92 with an average of 0.68. 11 loci confirmed Hardy-Weinberg equilibrium (P>0.05) and no evidence for linkage disequilibrium was observed among pairs of loci. Dendrogram based on Nei's genetic distance grouped Assam and West Bengal duck populations and separated the Uttarakhand duck population. The results provide evidences of the applicability of chicken microsatellite markers in determining the genetic variations and relationship among three ducks populations in India. © 2011 Academic Journals.


Padma G.,Osmania University | Charita B.,Sandor Proteomics Pvt Ltd | Swapna N.,Osmania University | Mamata M.,Osmania University | Padma T.,Osmania University
JRAAS - Journal of the Renin-Angiotensin-Aldosterone System | Year: 2015

Introduction: AGT is the first gene to be linked to essential hypertension (EHT). It harbors several variants of which only few polymorphisms are found to exhibit positive and negative associations with hypertension. In the present study, the AGT gene was screened to detect already reported and novel variations contributing to the development of hypertension. Method: In total, 215 hypertensives and 230 normotensives were screened for variations in all the five exons and a part of promoter of AGT gene using single strand conformation polymorphism analysis followed by sequencing of samples showing mobility shifts on polyacrylamide gels. Results: Five novel variants, namely c.-61G>A in promoter, c.-4+17C>T in intron1, c.24T>C and c.28A>T in Exon2, and c.∗90 T>C in 3' untranslated region were detected in the AGT gene. c.-61G>A lies in the promoter region that plays a critical role in its expression. Variation c.-4+17C>T created a new enhancer site. c.24T>C (TCT-TCC) is a silent mutation while c.28A>T (p. M10L) has a possible damaging effect on the AGT protein. c.∗90T>C, detected in the 3' untranslated region is thought to play an important role in the translation and stability of the mRNA. Conclusion: Studies on the functional role of these novel variants are warranted to understand the mechanism underlying the development of EHT. © SAGE Publications.


Sathyavathi R.,University of Hyderabad | Dingari N.C.,Massachusetts Institute of Technology | Barman I.,Massachusetts Institute of Technology | Prasad P.S.R.,National Geophysical Research Institute Council for Scientific and Industrial Research | And 5 more authors.
Journal of Biophotonics | Year: 2013

In this letter, we propose a novel method for diagnosis of tuberculous meningitis using Raman spectroscopy. The silicate Raman signature obtained from Mycobacterium tuberculosis positive cases enables specific and sensitive detection of tuberculous meningitis from acquired cerebrospinal fluid samples. The association of silicates with the tuberculosis mycobacterium is discussed. We envision that this new method will facilitate rapid diagnosis of tuberculous meningitis without application of exogenous reagents or dyes and can be aptly used as a complementary screening tool to the existing gold standard methods. © 2013 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim.


PubMed | Sandor Proteomics Pvt. Ltd.
Type: Journal Article | Journal: Pakistan journal of biological sciences : PJBS | Year: 2014

The aim of the study is to standardize the simple method for extracting DNA from cells fixed in fixative (3:1 ratio of methanol and acetic acid glacial) mostly used for chromosomal studies in cattle and buffaloes. These fixed cells were stored for more than 6 months at refrigerated temperature. The fixed cells were washed 2-3 times by the ice cold 1x Phosphate Buffer Saline (PBS) with pH 7.4, so that effect of fixative may be eliminated. The genomic DNA was extracted by adding cell lysis and nucleus lysis buffers. The quality and quantity of DNA were estimated. The readings of nano drop and agarose gel electrophoresis indicate good quality DNA isolated with a rapid and simple protocol routinely using in our laboratory. The method enables us to study the DNA of a cattle and buffaloes after completing cytogenetic investigation or in cases where DNA samples are otherwise not available. This protocol may be useful for molecular analysis of DNA from fixed cells palettes.

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