scroll to top
Stuck on your essay?
Get ideas from this essay and see how your work stacks up
Word Count: 276
Introduction Autosomal dominant polycystic kidney disease ADPKD is one of the commonest genetic kidney disorders with the incidence of 1 in 400 to 1000 This disease is genetically heterogeneous with two genes identified PKD1 16p133 46 exons and PKD2 4q21 15 exons Based on reports about 85 of patients with ADPKD have at least one mutation in the PKD1 gene Genetic studies have demonstrated an important allelic variability between patients but very few data are known about the genetic variation in Iranian populations Methods In this study we performed coding exons exons 1 to 33 analysis of PKD1 by exon direct sequencing in a 7-year old boy with chronic kidney disease secondary to ADPKD and his parent during routine molecular diagnostics for ADPKD The patients father is ADPKD affected without any kidney dysfunction and the patients mother congenitaly has had one kidney Results a doubted pathogenic mutation found in all 3 members of this family was reported Molecular genetic testing found a missense mutation G to A at positions 3057 located in exon 25 of the PKD1 gene and a Novel missense mutation ACAGCA found in exon 11 of PKD1 at codon 2241ConclusionThe first mutation causes the conversion of amino acids V to M then we predicted the effects of V3057M change inprotein polycystin-1 structure and comprised the wild-type and mutant protein structures After that to check the validation of the softwares reports based on the pathogenicity of this mutation we sequenced exon 25 of 50 unrelated normal cases match by sex and Ethnicity and our finding suggested that this mutation is a polymorphism with high frequency 60 in population of south west of Iran The second mutation is a Novel polymorphism that changed Threonine to Alanine
@Kibin is a lifesaver for my essay right now!!
- Sandra Slivka, student @ UC Berkeley
Wow, this is the best essay help I've ever received!
- Camvu Pham, student @ U of M
If I'd known about @Kibin in college, I would have gotten much more sleep
- Jen Soust, alumni @ UCLA