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研究伊朗患者中该基因第25外显子多态性在常染色体显性多囊肾病发病机制中的作用。

Examining the Role of Polymorphisms in Exon 25 of the Gene in the Pathogenesis of Autosomal Dominant Polycystic Kidney Disease in ranian Patients.

作者信息

Bagheri Morteza, Makhdoomi Khadijeh, Taghizadeh Afshari Ali, Nikibakhsh Ahmad Ali, Abdi Rad Isa

机构信息

Nephrology and Kidney Transplant Research Center, Urmia University of Medical Sciences, Urmia, Iran.

Cellular and Molecular Research Center, Cellular and Molecular Medicine Institute, Urmia University of Medical Sciences, Urmia, Iran.

出版信息

Rep Biochem Mol Biol. 2019 Jul;8(2):102-110.

DOI:
PMID:31832432
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6844614/
Abstract

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is a highly prevalent life-threatening monogenic disorder with high morbidity and mortality. Roughly 1:400-1000 individuals are affected with this disease worldwide. The development of ADPKD is largely attributed to mutations in the polycystic kidney disease 1 and genes. However, the pathogenicity of the different polymorphisms in PDK1 in the development of ADPKD remains unclear. The aim of this study was to further elucidate the role of the polymorphisms in exon 25 of the gene in relation to the pathogenesis of ADPKD in Iranian patients. METHODS: The genomic DNA of 36 Iranian patients with ADPKD was isolated using the standard salting out method. The PCR products were directly sequenced and analyzed. RESULTS: The frequencies of CAG>GAG, ATG>GTG, GTC>GTA, and GTG>ATG polymorphisms in exon 25 of the PKD1 gene were 34 (94.44%), 33 (91.67%), 26 (72.22%), and 5 (13.89%), respectively. The most frequent polymorphism associated with ADPKD was the homozygous CAG→GAG which causes an amino acid change of Q[Gln] to E[Glu] at codon 3005. CONCLUSION: Our data suggests that there is potentially a common polymorphism of among the Iranian population with ADPKD. This may aid in the diagnosis and genetic screening of at-risk patients for ADPKD.

摘要

背景：常染色体显性多囊肾病（ADPKD）是一种高度流行的、危及生命的单基因疾病，发病率和死亡率都很高。全球约每400至1000人中就有1人受此疾病影响。ADPKD的发展很大程度上归因于多囊肾病1和 基因的突变。然而，PDK1中不同多态性在ADPKD发展中的致病性仍不清楚。本研究的目的是进一步阐明 基因第25外显子多态性在伊朗患者ADPKD发病机制中的作用。 方法：采用标准盐析法分离36例伊朗ADPKD患者的基因组DNA。对PCR产物进行直接测序和分析。 结果：PKD1基因第25外显子中CAG>GAG、ATG>GTG、GTC>GTA和GTG>ATG多态性的频率分别为34（94.44%）、33（91.67%）、26（72.22%）和5（13.89%）。与ADPKD相关的最常见多态性是纯合子CAG→GAG，它导致密码子3005处的氨基酸由Q[谷氨酰胺]变为E[谷氨酸]。 结论：我们的数据表明，在患有ADPKD的伊朗人群中可能存在一种常见的 多态性。这可能有助于ADPKD高危患者的诊断和基因筛查。

相似文献

[1]
Examining the Role of Polymorphisms in Exon 25 of the Gene in the Pathogenesis of Autosomal Dominant Polycystic Kidney Disease in ranian Patients.

Rep Biochem Mol Biol. 2019-7

[2]
Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.

Iran Biomed J. 2014-7

[3]
Autosomal dominant polycystic kidney disease (ADPKD) in Tunisia: From molecular genetics to the development of prognostic tools.

Gene. 2022-4-5

[4]
Mutational analysis in patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD): Identification of five mutations in the PKD1 gene.

Gene. 2018-6-1

[5]
New mutations in the PKD1 gene in Czech population with autosomal dominant polycystic kidney disease.

BMC Med Genet. 2009-8-17

[6]
Molecular genetic analysis of polycystic kidney disease 1 and polycystic kidney disease 2 mutations in pedigrees with autosomal dominant polycystic kidney disease.

J Res Med Sci. 2019-5-22

[7]
Analysis of gene mutations in PKD1/PKD2 by multiplex ligation-dependent probe amplification: some new findings.

Ren Fail. 2015-11

[8]
Co-segregation of candidate polymorphism rs201204878 of the gene in a large Iranian family with autosomal dominant polycystic disease.

Exp Ther Med. 2019-8

[9]
Mutational Screening of PKD1 and PKD2 Genes in Iranian Population Diagnosed with Autosomal Dominant Polycystic Kidney Disease.

Clin Lab. 2017-7-1

[10]
[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].

Nefrologia. 2000

引用本文的文献

[1]
Non-canonical DNA structures: Diversity and disease association.

Front Genet. 2022-9-5

[2]
Methylation of the Promoter Inversely Correlates with its Expression in Autosomal Dominant Polycystic Kidney Disease.

Rep Biochem Mol Biol. 2020-7

[3]
Identification of Novel Pathogenic Variants in Iranian Patients with Autosomal Dominant Polycystic Kidney Disease.

Rep Biochem Mol Biol. 2020-1

本文引用的文献

[1]
Diagnostic Imaging of Autosomal Dominant Polycystic Kidney Disease.

Pol J Radiol. 2016-9-17

[2]
A Novel PKD1 Mutation in a Patient with Autosomal Dominant Polycystic Kidney Disease.

Int J Mol Cell Med. 2016

[3]
Mutational analysis of PKD1 gene in a Chinese family with autosomal dominant polycystic kidney disease.

Int J Clin Exp Pathol. 2015-10-1

[4]
Growth of arachnoid cysts in patients with autosomal dominant polycystic kidney disease: serial imaging and clinical relevance.

Clin Kidney J. 2012-10

[5]
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management.

Orphanet J Rare Dis. 2014-5-1

[6]
Exon sequencing of PKD1 gene in an Iranian patient with autosomal-dominant polycystic kidney disease.

Iran Biomed J. 2014-7

[7]
Renal relevant radiology: radiologic imaging in autosomal dominant polycystic kidney disease.

Clin J Am Soc Nephrol. 2013-12-26

[8]
Regulation of STATs by polycystin-1 and their role in polycystic kidney disease.

JAKSTAT. 2013-4-1

[9]
Identification of novel mutations in Chinese Hans with autosomal dominant polycystic kidney disease.

BMC Med Genet. 2011-12-20

[10]
Educational paper: ciliopathies.

Eur J Pediatr. 2011-9-7

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