Sp1 Binding Site Polymorphism at COL1A1 Gene and Its Relation to Bone Mineral Density for Osteoporosis Risk Factor Among the Sikkimese Men and Women of Northeast India.

Single nucleotide polymorphism in the first intron of Collagen type I alpha 1 (COL1A1) gene which is the binding site of specificity protein 1 (Sp1) transcription factor associated with low bone mineral density and osteoporosis. To evaluate such genetic factors among the Sikkimese population, a total of 150 cases (75 men and 75 women) with primary osteopenia and osteoporosis and 150 healthy controls (75 men and 75 women) of age range between 35 and 65 years were enrolled in this study. The COL1A1 genotypes [SS, Ss and ss] were assessed by restriction enzyme [MscI] digestion of DNA after amplification by polymerase chain reaction. There, only 2.7% women and 1.3% men cases had restriction site with heterozygous genotype (Ss) and no homozygous genotype (ss) were detected. There was no statistically significant association between low bone mass and genotypes on analysis (χ2 = 1.014, P = 0.314; RR = 1.510) that, the Sp1 binding site polymorphism at the COLIA1 gene is very rare and has no contribution in the development low bone mineral density.

Delay in specimen processing-major source of preanalytical variation in serum electrolytes.

OBJECTIVE: To evaluate the stability of electrolytes in serum samples due to delay in analysis in a tertiary care government hospital in India, and the maximum time delay acceptable between sample centrifugation and analysis. MATERIALS AND METHODS: We estimated serum electrolytes of 400 samples with different time intervals between centrifugation and sample analysis on automated analyser. RESULTS: Values were compared using repeated measure ANNOVA and acceptable limit change using in house QC values of 6 months. During the time interval between centrifugation and sample analysis, the samples were kept uncovered in sample cups in the laboratory. Potassium values show significant changes within 1 h (T1, p<0.01) but sodium (T2, p <0.01) and chloride (T2, p <0.001) values are acceptable up to a time delay of 3 h between sample centrifugation and analysis. CONCLUSION: Samples for electrolytes should be analysed within 1-2 h of centrifugation and if there is any delay in analysis, the samples should be stored under proper conditions.