{"product_id":"patients-with-autosomal-dominant-polycystic-kidney-disease-9787238457455","title":"Patients with Autosomal Dominant Polycystic Kidney Disease","description":"\u003cp\u003e • Author(s): Shewata Pandita\u003cbr\u003e • Publisher: Akhand Publishing House\u003cbr\u003e • Publisher Imprint: Akhand Publishing House\u003cbr\u003e • BISAC: Nephrology\u003c\/p\u003e\u003cp\u003e\u003c\/p\u003e\u003cp\u003eAutosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the\u003c\/p\u003e\u003cp\u003epatients with Chronic Kidney Disease in India. The disease is caused by pathogenic\u003c\/p\u003e\u003cp\u003esequence variants in either PKD1 or PKD2 gene. The primary aim of the present\u003c\/p\u003e\u003cp\u003estudy was to evaluate PKD1 and PKD2 genes to identify the disease causing variants\u003c\/p\u003e\u003cp\u003ein patients of ADPKD. A significant phenotypic variability is observed in patients of\u003c\/p\u003e\u003cp\u003eADPKD with respect to progression of the disease. Genetic modifying factors are\u003c\/p\u003e\u003cp\u003ereported to be associated with this variability and thus, identification of these factors\u003c\/p\u003e\u003cp\u003ecould inform about targets for intervention. Given this, an attempt was made to\u003c\/p\u003e\u003cp\u003einvestigate the role of Glu298Asp (c.894G\u0026gt;T) polymorphism of NOS3 gene and two\u003c\/p\u003e\u003cp\u003epromoter polymorphisms (-2578C\u0026gt;A and -1154G\u0026gt;A) of VEGF gene in progression\u003c\/p\u003e\u003cp\u003eof disease in ADPKD patients.\u003c\/p\u003e\u003cp\u003ePKD1 and PKD2 variants were analyzed by direct gene sequencing and\/or multiplex\u003c\/p\u003e\u003cp\u003eligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD.\u003c\/p\u003e\u003cp\u003eThe pathogenic potential of the variants was evaluated computationally using multiple\u003c\/p\u003e\u003cp\u003ein silico web based prediction tools and by segregation analysis. NOS3 and VEGF\u003c\/p\u003e\u003cp\u003egene polymorphisms were genotyped in 123 patients of ADPKD and 100 healthy\u003c\/p\u003e\u003cp\u003econtrols. Genotyping was carried out using the amplification refractory mutationspecific\u003c\/p\u003e\u003cp\u003epolymerase chain reaction (ARMS-PCR) for NOS3 and restriction fragment\u003c\/p\u003e\u003cp\u003elength polymorphism (RFLP) for VEGF gene polymorphisms. Comparison of allele, \u003c\/p\u003e\u003cp\u003egenotype and haplotype frequencies between groups was done by using Chi-Square\u003c\/p\u003e\u003cp\u003e(χ2) test or Fisher's exact test.\u003c\/p\u003e","brand":"Akhand Publishing House","offers":[{"title":"Paperback","offer_id":45161582002327,"sku":"9787238457455","price":2446.0,"currency_code":"INR","in_stock":false}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0666\/3471\/1191\/files\/9787238457455.webp?v=1767666073","url":"https:\/\/atlanticbooks.com\/products\/patients-with-autosomal-dominant-polycystic-kidney-disease-9787238457455","provider":"Atlantic Books","version":"1.0","type":"link"}