scholarly journals System analysis of gene mutations and clinical phenotype in Chinese patients with autosomal-dominant polycystic kidney disease

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Meiling Jin ◽  
Yuansheng Xie ◽  
Zhiqiang Chen ◽  
Yujie Liao ◽  
Zuoxiang Li ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
System Analysis ◽  
Autosomal Dominant ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
Chinese Patients ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Novel mutations of PKD1 gene in Chinese patients with autosomal dominant polycystic kidney disease

2002 ◽  
Vol 17 (1) ◽  
pp. 75-80 ◽  
Author(s):  
Lan Ding ◽  
Sizhong Zhang ◽  
Weimin Qiu ◽  
Cuiying Xiao ◽  
Shaoqing Wu ◽  
...  
Keyword(s):  
Amino Acids ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Frameshift Mutation ◽  
Chinese Patients ◽  
Common Disease ◽  
Polycystic Kidney ◽  
Pkd1 Gene ◽  
Autosomal Dominant Polycystic Kidney

Abstract Background. Autosomal dominant polycystic kidney disease (ADPKD) is a common disease in China. The major gene responsible for ADPKD, PKD1, has been fully characterized and shown to encode an integral membrane protein, polycystin 1, which is thought to be involved in cell–cell and cell–matrix interaction. Until now, 82 mutations of PKD1 gene have been reported in European, American, and Asian populations. However, there has been no report on mutations of the PKD1 gene in a Chinese population. Methods. Eighty Chinese patients in 60 families with ADPKD were screened for mutations in the 3′ region of the PKD1 gene using polymerase chain reaction–single-strand conformation polymorphism (PCR–SSCP) and DNA-sequencing techniques. Results. Three mutations were found. The first mutation is a 12593delA frameshift mutation in exon 45, and the polycystin change is 4129WfsX4197, 107 amino acids shorter than the normal polycystin (4302aa). The second mutation is a 12470InsA frameshift mutation in exon 45, producing 4088DfsX4156, and the predicted protein is 148 amino acids shorter than the normal. The third one is a 11151C→T transition in exon 37 converting Pro3648 to Leu. In addition, nine DNA variants, including IVS44delG, were identified. Conclusions. Three mutations in Chinese ADPKD patients are described and all of them are de novo mutations. Data obtained from mutation analysis also suggests that the mutation rate of the 3′ single-copy region of PKD1 in Chinese ADPKD patients is very low, and there are no mutation hot spots in the PKD1 gene. Mutations found in Chinese ADPKD patients, including nucleotide substitution and minor frameshift, are similar to the findings reported by other researchers. Many mutations of the PKD1 gene probably exist in the duplicated region, promoter region, and the introns of PKD1.

scholarly journals Identification of Novel Nonsense Mutations in Iranian patients suffering from autosomal dominant polycystic kidney disease

2019 ◽  
Author(s):  
Fatemeh Khadangi ◽  
Adam Torkamanzehi ◽  
Mohammad Amin Kerachian
Keyword(s):  
Kidney Disease ◽  
Genetic Analysis ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
Molecular Genetic Analysis ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Iranian Patients

Abstract Background: Autosomal dominant polycystic kidney disease (ADPKD) is the predominant type of inherited kidney disorder, which occurs due to PKD1 and PKD2 gene mutations. ADPKD diagnosis is made primarily by kidney imaging; however, molecular genetic analysis needs to be implicated to confirm the diagnosis. It is critical to perform a molecular genetic analysis when the diagnosis is uncertain, particularly in simplex cases (i.e., a single occurrence in a family), in people with remarkably mild symptoms, or in individuals with atypical presentations. The main aim of this study is to determine the likelihood of PKD1 gene mutations in Iranian patients with ADPKD diagnosis. Methods: Genomic DNA was isolated from blood samples from 26 ADPKD patients, who were referred to the Qaem Hospital in Mashhad, Iran. By using suitable primers, 16 end exons of PKD1 gene that are regional hotspots, were replicated with PCR. Then, PCR products were subjected to DNA directional Sanger sequencing.Results: The results of DNA sequencing in the patients showed that exons 35, 36 and 37 were non- polymorphic, while most mutations had occurred in exons 44 and 45. Only in two patients, exon-intron boundary mutation had occurred in intron 44. Most of the variants were missense and non-synonymous types. Conclusion: In this study, we present nine novel mutations/polymorphisms in PKD1. These data will contribute to an improved diagnostic and genetic counseling in clinical settings. Keywords: Autosomal dominant polycystic kidney disease; PKD1; mutational analysis; Iranian

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