August 2010
Four novel mutations detected in the exon 1 of MBL2 gene associated with rheumatic heart disease in South Indian patients
The aim of this study was to determine the genetic variations associated with the mannose-binding lectin 2 (MBL2) gene in rheumatic heart disease (RHD) patients in the Vellore region, South India. This study included 50 patients with RHD and equal number of age and sex matched healthy controls. The genomic DNA was extracted from peripheral blood, to find out the genetic variations if any in MBL2 gene....
August 2010
Healthy carrier parents in partial 7 and 9 chromosome trisomy in two pediatric patients: Report cases at the Hospital para el Niño Poblano, Mexico
Two pediatric cases are reported in this study, a one year and five months old male patient with partial trisomy for the long arm of chromosome 9 due to chromosome segregation error in the father 46 XY, del (9q-)/46 XY dup (10q+), and a seven years old male patient with partial trisomy for the long arm of chromosome 7 due to chromosome segregation error in the mother 46 XX, ins (10; 7) (q21; q23q35) are...
August 2010
Interleukin-1b gene polymorphism and its association with chronic periodontitis in South Indian population
Interleukin-1 beta (IL-1b) is a potent inflammatory mediator and an important polymorphism in the locus +3954 (C/T) of the human IL1B gene has been shown to affect the levels of this cytokine. This functional polymorphism has been associated with the establishment of inflammatory diseases, including periodontal disease, in European, Asian and North American populations. The aim of this study was to...
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