scholarly journals Personalized approach to drug therapy for multimorbid patients with left ventricular non-compaction cardiomyopathy

2020 ◽  
pp. 25-27
Author(s):  
А.В. Блохина ◽  
А.И. Ершова ◽  
А.Н. Мешков ◽  
А.В. Киселева ◽  
Р.П. Мясников ◽  
...  
Keyword(s):  
Drug Therapy ◽  
Left Ventricular ◽  
Nucleotide Polymorphisms ◽  
Chain Reaction ◽  
Single Nucleotide ◽  
Thermofisher Scientific ◽  
History Of ◽  
Polymerase Chain ◽  
Personalized Approach ◽  
Multimorbid Patients

Некомпактный миокард левого желудочка (НМЛЖ) характеризуется развитием ряда осложнений, что в сочетании с сопутствующими заболеваниями обычно приводит к полипрагмазии. Фармакогенетическое тестирование (ФГТ), направленное на выявление вариантов генов, ассоциированных с метаболизмом лекарственных препаратов (ЛП), может позволить подобрать наиболее эффективную и безопасную лекарственную терапию в каждом конкретном случае. В исследование было включено 16 больных с НМЛЖ, его осложнениями и другими заболеваниями. Всем пациентам проводилась оценка 60 однонуклеотидных полиморфизмов (SNP) с помощью полимеразной цепной реакции в реальном времени в амплификаторе QuantStudio 12KFlexReal-TimePCRSystem (ThermoFisherScientific, США). По результатам ФГТ выявлено 62,5% пациентов с НМЛЖ, генотипы которых ассоциированы с изменением метаболизма ЛП. У 12,5% пациентов в анамнезе прием ЛП, требующих коррекции дозы или замены на другой ЛП с учетом результатов ФГТ. A left ventricular non-compaction cardiomyopathy (LVNC) is characterized by the development of a number of complications, which in combination with concomitant diseases usually leads to polypharmacy. Pharmacogenetic testing (PGT), aimed at identifying variants of genes associated with the metabolism of drugs, allows to choose the most effective and safe drug therapy in each case. The study includes 16 patients with LVNC, its complications and other diseases. All patients were assessed for 60 single nucleotide polymorphisms (SNPs) using real-time polymerase chain reaction in a QuantStudio 12KFlexReal-TimePCRSystem thermocycler (ThermoFisher Scientific, USA). According to the results of PGT 62.5% of the patients with LVNC and genotypes associated with a change in the metabolism of drugs were revealed. 12.5% of the patients had a history of taking drugs that required dose adjustment or replacement with another drug, taking into account the results of PGT.

Polymorphisms of LHβ and GnRHR genes and their association with the number of embryos recovered in goats

2014 ◽  
Vol 54 (8) ◽  
pp. 987 ◽  
Author(s):  
M. Z. Fu ◽  
G. Li ◽  
Z. Q. Zhou
Keyword(s):  
Polymerase Chain Reaction ◽  
Single Nucleotide Polymorphisms ◽  
Gene Polymorphism ◽  
Corpus Luteum ◽  
Nucleotide Polymorphisms ◽  
Chain Reaction ◽  
Single Strand Conformational Polymorphism ◽  
Single Nucleotide ◽  
Exon 2 ◽  
Polymerase Chain

The objective of the present study was to explore a predictor of superovulation response on the basis of associations between the number of embryos recovered and gene polymorphism. Variation in the goat LHβ and GnRHR genes was investigated using polymerase chain reaction–single-strand conformational polymorphism and DNA sequencing. Two single nucleotide polymorphisms (SNPs) were identified in the 5′-UTR of LHβ gene (A59C, P1 locus) and in the Exon 2 of GnRHR gene (T177A, P6 locus). At the P1 locus in both breeds, the frequencies of one allele were 0.46 and 0.51, respectively. At the P6 locus, the minor allele frequency was 0.23. Associations of both SNPs with the number of embryos recovered and the corpus luteum number were evaluated in Boer and Shaanbei goat breeds. Association analysis showed that both SNPs had significant (P < 0.05) effects on the number of embryos recovered and corpus luteum number. These results indicate that LHβ and GnRHR genes are potential markers for the number of embryos recovered.

Classification of wheat PPO genes and effect of non-synonymous cSNP on kernel PPO activity

2008 ◽  
Vol 5 (1) ◽  
pp. 81-86 ◽  
Author(s):  
Wang Xiao-Bo ◽  
Ma Chuan-Xi ◽  
Si Hong-Qi ◽  
He Xian-Fang
Keyword(s):  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Chain Reaction ◽  
Wheat Varieties ◽  
Single Nucleotide ◽  
Pcr Product ◽  
Dnaman Software ◽  
Dna Fragment ◽  
Polymerase Chain

AbstractPolyphenol oxidase (PPO) activity is highly related to the undesirable browning of wheat-based end products. In this study, wheat PPO sequences (mRNA) were searched/BLASTed in the NCBI database and aligned using DNAMAN software. The results showed that wheat PPO genes could be divided into two clusters (I and II) and that three genes (‘i’) of cluster II seemed not to be located on chromosomes 2A and 2D. Ninety-four single nucleotide polymorphisms (SNPs) were detected between two haplotypes of the PPO gene on chromosome 2D. Eighty of these were found in the coding region (coding (c) SNPs) and 36 were non-synonymous cSNPs, which could affect the PPO amino acid sequence. Primers (STS-H) were designed at some non-synonymous cSNPs sites and were used to investigate the correlations between allelic variants and PPO activity of seeds – a total of 130 common wheat varieties were evaluated in 2 years. The results showed that STS-H could amplify a 460 bp DNA fragment in most cultivars with high PPO activity, while no PCR product was detected in most cultivars with low PPO activity. To improve the selection efficiency of a single dominance molecular marker, the multiplex polymerase chain reaction (PCR) system of STS-H and STS01 markers was also studied, based on the complementary between them.

scholarly journals Novel Associations Between Brca1 Variants C.181 T>G (Rs28897672) and Ovarian Cancer Risk in Saudi Females

2019 ◽  
Vol 38 (1) ◽  
pp. 13-21 ◽  
Author(s):  
Nora Alyahri ◽  
Saba Abdi ◽  
Wajahatullah Khan ◽  
Mohamed Elrobh ◽  
Mohammed H. Addar ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Brca1 Gene ◽  
P Value ◽  
Ovarian Cancer Risk ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
High Risk Women ◽  
History Of ◽  
Polymerase Chain ◽  
Cancer Tissues

Summary Background: Mutations in BRCA1 gene have been implicated in ovarian cancers, and BRCA testing may be conducted in high-risk women. This study was designed to determine the frequency of three single nucleotide polymorphisms (SNPs) variants in BRCA1 gene and BRCA1 expression in Saudi females with ovarian cancer. Methods: Expression levels of mRNA of BRCA1 gene were studied in 10 ovarian cancer and 10 normal ovarian tissues, by quantitative real time polymerase chain reaction (qPCR). The study also included 28 females who had suffered from ovarian cancer and had been successfully operated upon and 90 healthy females with no history of cancer. Blood was drawn in EDTA tubes and used for extraction of DNA. The genotyping was carried out using Taqman® SNP Genotyping kit by RT-PCR. The variants investigated included c.871 T>C (rs799917), c.1040 G>A (rs4986852), c.181 T>G (rs28897672) in BRCA1 gene. Results: The c.181 T>G (rs28897672) showed significantly different genotype and allele frequencies between the patients and the control subjects (p value = 0.002 and 0.02, respectively). The genotype TG was significantly protective (OR = 0.36, p value = 0.024). The mRNA expression of BRCA1 gene was found to be low in the ovarian cancer tissues. Conclusions: This study showed that c.181 T>G in BRCA1 genes is associated with the development of ovarian cancer in Saudis. More studies are needed to unveil other SNPs that may be associated with ovarian cancer and to understand the mechanism(s) involved in reducing the expression of BRCA1 gene in ovarian cancer tissues.

Sign in / Sign up

Export Citation Format

Share Document