scholarly journals Functional impact of a single-nucleotide polymorphism in the OPRD1 promoter region

2010 ◽  
Vol 55 (5) ◽  
pp. 278-284 ◽  
Author(s):  
Huiping Zhang ◽  
Joel Gelernter ◽  
Jeffrey R Gruen ◽  
Henry R Kranzler ◽  
Aryeh I Herman ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Promoter Region ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Functional Impact

​Identification of Single Nucleotide Polymorphism (SNP) C-2161G in the Promoter Region of Prolactin Gene and its Association with Egg Production in Tellicherry Native Chicken

2021 ◽  
Author(s):  
Azhaguraja Manoharan ◽  
S. Sankaralingam ◽  
P. Anitha ◽  
Binoj Chacko ◽  
T.V. Aravindakshan
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Promoter Region ◽  
Egg Production ◽  
Rflp Analysis ◽  
Genotypic Frequency ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Chicken Population ◽  
Native Chicken ◽  
Prolactin Gene

Background: Prolactin is a physiological candidate gene which has significant effects on egg production in poultry. Also, it plays a major role on incubation behaviour (broodiness) in birds. The main objective of the present study was identification of single nucleotide polymorphism (SNP) C-2161G in the promoter region of prolactin gene and its association with egg production in Tellicherry native chicken population. Methods: A total of 200 blood samples were collected from the randomly selected birds of Tellicherry native chicken in All India Co-ordinated Research Project on Poultry improvement (AICRP) farm, Mannuthy, Thrissur, Kerala. Isolation of Genomic DNA was done and the isolated samples were subjected to polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis to identify the SNP C-2161G of prolactin gene. Result: On the basis of RFLP patterns, birds were designated with three different genotypes namely CC, CG and GG. The allelic and genotypic frequency was calculated. The observed genotypic frequency at the SNP site C-2161G was CC (0.61), CG (0.160) and GG (0.23) and the frequency of allele was 0.69 for C and 0.31 for G. The egg production was shown to be statistically similar for the genotypes of SNP C-2161G.

scholarly journals Quantitative Analysis of Single-Nucleotide Polymorphism for Rapid Detection of TR34/L98H- and TR46/Y121F/T289A-Positive Aspergillus fumigatus Isolates Obtained from Patients in Iran from 2010 to 2014

2015 ◽  
Vol 60 (1) ◽  
pp. 387-392 ◽  
Author(s):  
Faezeh Mohammadi ◽  
Seyed Jamal Hashemi ◽  
Jan Zoll ◽  
Willem J. G. Melchers ◽  
Haleh Rafati ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Quantitative Analysis ◽  
Single Nucleotide Polymorphisms ◽  
Aspergillus Fumigatus ◽  
Tandem Repeat ◽  
Promoter Region ◽  
Nucleotide Polymorphisms ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Content Type

ABSTRACTWe employed an endpoint genotyping method to update the prevalence rate of positivity for the TR34/L98H mutation (a 34-bp tandem repeat mutation in the promoter region of thecyp51Agene in combination with a substitution at codon L98) and the TR46/Y121F/T289A mutation (a 46-bp tandem repeat mutation in the promoter region of thecyp51Agene in combination with substitutions at codons Y121 and T289) among clinicalAspergillus fumigatusisolates obtained from different regions of Iran over a recent 5-year period (2010 to 2014). The antifungal activities of itraconazole, voriconazole, and posaconazole against 172 clinicalA. fumigatusisolates were investigated using the European Committee on Antimicrobial Susceptibility Testing (EUCAST) broth microdilution method. For the isolates with an azole resistance phenotype, thecyp51Agene and its promoter were amplified and sequenced. In addition, using a LightCycler 480 real-time PCR system, a novel endpoint genotyping analysis method targeting single-nucleotide polymorphisms was evaluated to detect the L98H and Y121F mutations in thecyp51Agene of all isolates. Of the 172A. fumigatusisolates tested, the MIC values of itraconazole (≥16 mg/liter) and voriconazole (>4 mg/liter) were high for 6 (3.5%). Quantitative analysis of single-nucleotide polymorphisms showed the TR34/L98H mutation in thecyp51Agenes of six isolates. No isolates harboring the TR46/Y121F/T289A mutation were detected. DNA sequencing of thecyp51Agene confirmed the results of the novel endpoint genotyping method. By microsatellite typing, all of the azole-resistant isolates had genotypes different from those previously recovered from Iran and from the Dutch TR34/L98H controls. In conclusion, there was not a significant increase in the prevalence of azole-resistantA. fumigatusisolates harboring the TR34/L98H resistance mechanism among isolates recovered over a recent 5-year period (2010 to 2014) in Iran. A quantitative assay detecting a single-nucleotide polymorphism in thecyp51Agene ofA. fumigatusis a reliable tool for the rapid screening and monitoring of TR34/L98H- and TR46/Y121F/T289A-positive isolates and can easily be incorporated into clinical mycology algorithms.

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