dna testing
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Author(s):  
R. V. Tamarova ◽  
E. V. Egorashina

Under the conditions of intensification of dairy cattle breeding, genetic markers of protein-milk content, namely allelic variants of kappa-casein and beta-lactoglobulin, are increasingly used. They are established by the method of DNA testing on blood samples of breeding animals. This method is also being introduced in our country, which is especially important when selecting breeding sires for the artificial insemination network. The purpose of the research was to study the quality indicators of milk of cows bred in the region of breeds (Ayrshire, Holstein, Yaroslavl), and the protein-milk product produced from it as cottage cheese, depending on the influence of the genotype. The research has been carried out in CJSC “Agrofirma “Pakhma” in the Yaroslavl region. The object of research was cows of Ayrshire, Holstein and Yaroslavl breeds. The sample included 99 cows, including 36 animals of Ayrshire breed, 33 Holstein and 30 Yaroslavl breed. A comparative comprehensive evaluation of the dairy productivity of cows of Ayrshire, Holstein and Yaroslavl breeds under the conditions in one herd using DNA testing has been carried out, for the entire productive period of economic use, the realization of the genetic potential has been traced. For the first time in the Yaroslavl region DNA testing of Ayrshire cows was carried out and new data on the polymorphism of the CSN3 and LGB genes in Holstein and Yaroslavl cows were obtained. The association of CSN3, LGB genotypes and complex genotypes with milk productivity and technological properties of milk has been investigated. The yield and quality of cottage cheese from the milk of cows of different breeds in association with CSN3 genotypes have been studied. As a result of studying the quality indicators of milk of cows of different breeds and the protein-milk product produced from it as cottage cheese, depending on the influence of the genotype. It has been found that cows of different breeds and different genotypes had significant differences in the quality of milk and cottage cheese produced from it, which must be taken into account when conducting breeding work with these breeds.


2021 ◽  
Vol 1 (2) ◽  
pp. 1-5
Author(s):  
Alfi Sophian ◽  
Andi Syukur

Analysis of the purity and concentration of isolated DNA in the manufacture of standard rat DNA was carried out to see whether the isolation carried out could produce good quality DNA. The purpose of this study is to provide information on the manufacture of raw DNA in species DNA testing where the raw material that has been purchased so far made from synthetic materials can be more economical if using DNA material derived from the meat raw material of the target species. The DNA extraction method used is the column spin method or column centrifuge using the Intron Patho Gene-Spin (Viral DNA/RNA) extraction kit. Analysis method of concentration and purity of isolated DNA was analyzed based on the average value of concentration and purity which was read using a nanophotometer. Based on the results of the research conducted, the results of the isolated DNA concentration values ​​were in the concentration range of 41,250 ng/ mL to 42,300 ng/mL, with the average concentration of isolated DNA was 41,777 ng/mL. For the value of the purity of the isolated DNA whose absorbance was read using a nanophotometer at a wavelength of A260/A280, the results were between 2,301 to 2,384 with the average value of purity being at 2,326. This study concludes that all the extracted samples that showed the results of the DNA analysis produced were included in the good DNA category.


2021 ◽  
Author(s):  
Cindy Simoens ◽  
Tarik Gheit ◽  
Ruediger Ridder ◽  
Ivana Gorbaslieva ◽  
Dana Holzinger ◽  
...  

Abstract BACKGROUNDThe incidence of high-risk human papillomavirus (hrHPV)-driven head and neck squamous cell carcinoma, in particular oropharyngeal cancers (OPC), is increasing in high-resource countries. Patients with HPV-induced cancer respond better to treatment and consequently have lower case-fatality rates than patients with HPV-unrelated OPC. These considerations highlight the importance of reliable and accurate markers to diagnose truly HPV-induced OPC. METHODSThe accuracy of three possible test strategies, i.e. a) hrHPV DNA PCR (DNA), b) p16INK4a immunohistochemistry (IHC) (p16), and c) the combination of both tests (considering joint DNA and p16 positivity as positivity criterion), was analysed in tissue samples from 99 Belgian OPC patients enrolled in the HPV-AHEAD study. Presence of HPV E6*I mRNA (mRNA) was considered as the reference, indicating HPV etiology. RESULTSNinety-nine OPC patients were included, for which the positivity rates were 36.4%, 34.0% and 28.9% for DNA, p16 and mRNA, respectively. Ninety-five OPC patients had valid test results for all three tests (DNA, p16 and mRNA). Using mRNA status as the reference, DNA testing showed 100% (28/28) sensitivity, and 92.5% (62/67) specificity for the detection of HPV-driven cancer. p16 was 96.4% (27/28) sensitive and equally specific (92.5%; 62/67). The sensitivity and specificity of combined p16+DNA testing was 96.4% (27/28) and 97.0% (65/67), respectively. In this series, p16 alone and combined p16+DNA missed 1 in 28 HPV driven cancers, but p16 alone misclassified 5 in 67 non-HPV driven as positive, whereas combined testing would misclassify only 2 in 67. CONCLUSIONSSingle hrHPV DNA PCR and p16INK4a IHC are highly sensitive but less specific than using combined testing to diagnose HPV-driven OPC patients. Since HPV-driven OPC cancer can be treated less aggressively, combined testing can reduce treatment sequelae at the expense of a small number of patients that may receive less effective therapy.


2021 ◽  
pp. jmedgenet-2021-108062
Author(s):  
Islam Salikhanov ◽  
Karl Heinimann ◽  
Pierre Chappuis ◽  
Nicole Buerki ◽  
Rossella Graffeo ◽  
...  

BackgroundWe estimated the cost-effectiveness of universal DNA screening for Lynch syndrome (LS) among newly diagnosed patients with colorectal cancer (CRC) followed by cascade screening of relatives from the Swiss healthcare system perspective.MethodsWe integrated decision trees with Markov models to calculate incremental cost per quality-adjusted life-year saved by screening all patients with CRC (alternative strategy) compared with CRC tumour-based testing followed by DNA sequencing (current strategy).ResultsThe alternative strategy has an incremental cost-effectiveness ratio of CHF65 058 compared with the current strategy, which is cost-effective according to Swiss standards. Based on annual incidence of CRC in Switzerland, universal DNA screening correctly identifies all 123 patients with CRC with LS, prevents 17 LS deaths and avoids 19 CRC cases, while the current strategy leads to 32 false negative results and 253 LS cases lost to follow-up. One way and probabilistic sensitivity analyses showed that universal DNA testing is cost-effective in around 80% of scenarios, and that the cost of DNA testing and the number of invited relatives per LS case determine the cost-effectiveness ratio.ConclusionResults can inform policymakers, healthcare providers and insurance companies about the costs and benefits associated with universal screening for LS and cascade genetic testing of relatives.


2021 ◽  
pp. 83-95
Author(s):  
David Bourn
Keyword(s):  

2021 ◽  
Vol 11 (4) ◽  
pp. 219-229
Author(s):  
Joanne Simpson ◽  
Joan Anusas ◽  
Denise Oxnard ◽  
Sylvia Wright ◽  
Ruth McGowan ◽  
...  

Arrhythmogenic cardiomyopathy is a familial heart muscle disease characterized by structural, electrical, and pathological abnormalities. Recognition of left ventricular (LV) involvement in arrhythmogenic right ventricular cardiomyopathy (ARVC) has led to the newer term of arrhythmogenic cardiomyopathy (ACM). We report on a family with autosomal dominant desmoplakin (DSP) related ACM to illustrate the broad clinical spectrum of disease. The importance of evaluation of relatives with cardiac magnetic resonance imaging and consideration of genetic testing in the absence of Task Force diagnostic criteria is discussed. The practical and ethical issues of access to the Guthrie collection for deoxyribonucleic acid (DNA) testing are considered.


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