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Patients with Autosomal Dominant Polycystic Kidney Disease (in English)
Shewata Pandita
(Author)
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Akhand Publishing House
· Paperback
Patients with Autosomal Dominant Polycystic Kidney Disease (in English) - Pandita, Shewata
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Synopsis "Patients with Autosomal Dominant Polycystic Kidney Disease (in English)"
Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of thepatients with Chronic Kidney Disease in India. The disease is caused by pathogenicsequence variants in either PKD1 or PKD2 gene. The primary aim of the presentstudy was to evaluate PKD1 and PKD2 genes to identify the disease causing variantsin patients of ADPKD. A significant phenotypic variability is observed in patients ofADPKD with respect to progression of the disease. Genetic modifying factors arereported to be associated with this variability and thus, identification of these factorscould inform about targets for intervention. Given this, an attempt was made toinvestigate the role of Glu298Asp (c.894G>T) polymorphism of NOS3 gene and twopromoter polymorphisms (-2578C>A and -1154G>A) of VEGF gene in progressionof disease in ADPKD patients.PKD1 and PKD2 variants were analyzed by direct gene sequencing and/or multiplexligation-dependent probe amplification (MLPA) in 125 unrelated patients of ADPKD.The pathogenic potential of the variants was evaluated computationally using multiplein silico web based prediction tools and by segregation analysis. NOS3 and VEGFgene polymorphisms were genotyped in 123 patients of ADPKD and 100 healthycontrols. Genotyping was carried out using the amplification refractory mutationspecificpolymerase chain reaction (ARMS-PCR) for NOS3 and restriction fragmentlength polymorphism (RFLP) for VEGF gene polymorphisms. Comparison of allele, genotype and haplotype frequencies between groups was done by using Chi-Square(χ2) test or Fisher's exact test.
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The book is written in English.
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