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Information Journal Paper

Title

LINKAGE ANALYSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN IRANIAN FAMILIES THROUGH PKD1 AND PKD2 DNA MICROSATELLITE MARKERS

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Abstract

 Background: Autosomal dominant polycystic kidney disease (ADPKD) is a heterogeneous disorder. Two known loci, including PKD1 (16p13.3) andPKD2 (4q21), as well as a third locus that is not clearly identified, cause ADPKD.Objectives: The aim of this study was to assess the genetic LINKAGE of 4 linked microsatellite markers of PKD genes (PKD1 and PKD2) to ADPKD for genetic screening of familiar PKD patients in Yazd.Methods: This familial case-control study was conducted among 18 families. The LINKAGE analysis was performed using 2 pairs of polymorphic microsatellite markers that are closely linked to thePKD1 gene (16AC2.5 and KG8) and 2 other pairs closely linked to thePKD2 gene (D4S231 and D4S423). These markers were detected through PCR of tandem repeats method and polyacrylamide gel electrophoresis.Results: The disease was linked to PKD1 about 77.8%, PKD2 16.7% of the families, and to neither gene in 5.5%, according to LOD scores and allele segregation analysis. It also found relatively high heterozygosity and polymorphism information contents (PIC) values for 3 markers including 16AC2.5 (PIC: 0.798) forPKD1 gene and D4S423 (PIC: 0.807) as well as D4S231 (PIC: 0.741) for PKD2 gene. However, it seems that KG8 marker has no significant LINKAGE to thePKD1 gene (PIC: 0.329) among Yazd PKD patients.Conclusions: These results show similarity to another report from Iranian families and according to these similar results, it seems that 16AC2.5 and D4S423 markers would provide an improved framework for genetic screening of ADPKD patients among familiar PKD patients in Yazd.

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    APA: Copy

    HAJIZADEH TAFTI, FATEMEH, DEHGHANI, MOHAMMAD REZA, FARASHAHI YAZD, EHSAN, GOLZADEH, MARYAM, VAHIDI MEHRJARDI, MOHAMMAD YAHYA, & KALANTAR, SEYED MEHDI. (2017). LINKAGE ANALYSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN IRANIAN FAMILIES THROUGH PKD1 AND PKD2 DNA MICROSATELLITE MARKERS. THE JOURNAL OF NEPHRO-UROLOGY MONTHLY, 9(4), 0-0. SID. https://sid.ir/paper/323807/en

    Vancouver: Copy

    HAJIZADEH TAFTI FATEMEH, DEHGHANI MOHAMMAD REZA, FARASHAHI YAZD EHSAN, GOLZADEH MARYAM, VAHIDI MEHRJARDI MOHAMMAD YAHYA, KALANTAR SEYED MEHDI. LINKAGE ANALYSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN IRANIAN FAMILIES THROUGH PKD1 AND PKD2 DNA MICROSATELLITE MARKERS. THE JOURNAL OF NEPHRO-UROLOGY MONTHLY[Internet]. 2017;9(4):0-0. Available from: https://sid.ir/paper/323807/en

    IEEE: Copy

    FATEMEH HAJIZADEH TAFTI, MOHAMMAD REZA DEHGHANI, EHSAN FARASHAHI YAZD, MARYAM GOLZADEH, MOHAMMAD YAHYA VAHIDI MEHRJARDI, and SEYED MEHDI KALANTAR, “LINKAGE ANALYSIS OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE IN IRANIAN FAMILIES THROUGH PKD1 AND PKD2 DNA MICROSATELLITE MARKERS,” THE JOURNAL OF NEPHRO-UROLOGY MONTHLY, vol. 9, no. 4, pp. 0–0, 2017, [Online]. Available: https://sid.ir/paper/323807/en

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