Identification of Mutation of PKD2 Gene for Autosomal Dominant Polycystic Kidney Disease in Selected Gujarat Population

Identification of Mutation of PKD2 Gene for Autosomal Dominant Polycystic Kidney Disease in Selected Gujarat Population


Chaudhary D, Patel K, Patel R, Patel V


Abstract

Autosomal dominant polycystic kidney (ADPKD) is one of the most common hereditary disease with 1 in 1000 in general population. ADPKD is characterised by formation of fluid filled cysts in both kidneys that leads to progressive renal failure. It is a heterogeneous disorder with mutations in two genes PKD1 and PKD2 gene. In Gujarat state ADPKD families the phenotype and genetic background has not previously been characterised. Therefore, in this study 4 subjects with ADPKD from Institute of Kidney Disease Research Centre, Ahmedabad, and Civil Hospital were identified and investigated for genomic study. The aim was to identify PKD2 gene mutation analysis for selected population. The mutation screening of PKD1 gene is difficult because of its size (around 14 kb) and it contains 46 exons. For the same study purpose we have used ABI 3730 SEQUENCER. The sequence data were compared and contrast within a group as well as with the available source of gene bank NCBI. The mutation co-segregating with ADPKD was identified in all 4 subjects for PKD2 gene. Of the four mutations 2 mutations were frameshift mutation, 1 was nonsense mutation and 1 was missense mutation. The maximum total score was matched with data and found to be few exceptions. Finally the mutation detection was done with help of codon code software with output of point mutation and heterozygous mutation. In selected patient out of 4 three sequencing samples were denoted a point mutation. So our findings reveal that the maximum patients showing were in heredited to polycystic kidney disease.


Keywords

PKD2, ADPKD, Mutation, Sequencing.


Cite This Article

Chaudhary D, Patel K, Patel R, Patel V, Identification of Mutation of PKD2 Gene for Autosomal Dominant Polycystic Kidney Disease in Selected Gujarat Population, International Journal for Pharmaceutical Research Scholars, 2012, 1(4), 52-67.

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