scholarly journals Detection of single nucleotide polymorphisms in coagulation factor XI deficient patients by multitemperature single-strand conformation polymorphism analysis

2005 ◽  
Vol 19 (6) ◽  
pp. 233-240 ◽  
Author(s):  
Alexandra Bezak ◽  
Radosław Kaczanowski ◽  
Astrid Dossenbach-Glaninger ◽  
Krzysztof Kucharczyk ◽  
Werner Lubitz ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Coagulation Factor ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Polymorphism Analysis ◽  
Nucleotide Polymorphisms ◽  
Factor Xi ◽  
Single Nucleotide ◽  
Conformation Polymorphism Analysis ◽  
Conformation Polymorphism

scholarly journals DETECTION SINGLE NUCLEOTIDE POLYMORPHISMS IN UROMODULIN PROMOTER REGION ASSOCIATED WITH RENAL DISEASES USING SINGLE-STRAND CONFORMATION POLYMORPHISM-POLYMERASE CHAIN POLYMORPHISMS TECHNIQUE

2018 ◽  
Vol 11 (1) ◽  
pp. 205
Author(s):  
Zahraa Isam ◽  
Rabab Omran Al-jelawi- ◽  
Ammad Hassan Mahmood
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Promoter Region ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Thick Ascending Limb ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Blood Samples ◽  
Polymerase Chain ◽  
Conformation Polymorphism

  Objective: The uromodulin, a glycoprotein, expressed and secreted by epithelial kidney cells lining the thick ascending limb of the Henle’s loop. It is encoded by the UMOD gene in humans. Our objective was to analyze single nucleotide polymorphisms (SNPs) in the UMOD promoter region in patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD).Methods: The blood samples were collected from 100 patients with CKD (50) and ESRD (50), who admitted at Merjan Teaching Hospital in Babylon Province, Iraq (February-July 2016). In addition, 50 blood samples of healthy control. The SNPs of UMOD promoter region was investigated using single-strand conformation polymorphism-polymerase chain polymorphisms (SSCP-PCR) and DNA sequencing techniques.Results: UOMD promoter region polymorphisms using PCR-SSCP and sequencing DNA appeared three different conformational haplotypes, including A\G 49 haplotype (5 bands), A\G 49 and C\A 247 haplotype (5 bands), and C\G 45 and A\G 49 haplotype (6 bands) distributed among CKD and ESRD cases, due to the presence of three SNPs. There was no association between band numbers of PCR-SSCP with ESRD and CKD compared with a control group.Conclusion: SSCP-PCR is a good screening method to detect genetic variations in an uromodulin promoter region.

scholarly journals DETECTION SINGLE NUCLEOTIDE POLYMORPHISMS IN UROMODULIN PROMOTER REGION ASSOCIATED WITH RENAL DISEASES USING SINGLE-STRAND CONFORMATION POLYMORPHISM-POLYMERASE CHAIN POLYMORPHISMS TECHNIQUE

2018 ◽  
Vol 11 (1) ◽  
pp. 205 ◽  
Author(s):  
Zahraa Isam ◽  
Rabab Omran Al-jelawi- ◽  
Ammad Hassan Mahmood
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Promoter Region ◽  
Single Strand Conformation Polymorphism ◽  
Single Strand ◽  
Thick Ascending Limb ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Blood Samples ◽  
Polymerase Chain ◽  
Conformation Polymorphism

  Objective: The uromodulin, a glycoprotein, expressed and secreted by epithelial kidney cells lining the thick ascending limb of the Henle’s loop. It is encoded by the UMOD gene in humans. Our objective was to analyze single nucleotide polymorphisms (SNPs) in the UMOD promoter region in patients with chronic kidney disease (CKD) and end-stage renal disease (ESRD).Methods: The blood samples were collected from 100 patients with CKD (50) and ESRD (50), who admitted at Merjan Teaching Hospital in Babylon Province, Iraq (February-July 2016). In addition, 50 blood samples of healthy control. The SNPs of UMOD promoter region was investigated using single-strand conformation polymorphism-polymerase chain polymorphisms (SSCP-PCR) and DNA sequencing techniques.Results: UOMD promoter region polymorphisms using PCR-SSCP and sequencing DNA appeared three different conformational haplotypes, including A\G 49 haplotype (5 bands), A\G 49 and C\A 247 haplotype (5 bands), and C\G 45 and A\G 49 haplotype (6 bands) distributed among CKD and ESRD cases, due to the presence of three SNPs. There was no association between band numbers of PCR-SSCP with ESRD and CKD compared with a control group.Conclusion: SSCP-PCR is a good screening method to detect genetic variations in an uromodulin promoter region.

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