NAT2 and CYP1B1 genetic polymorphisms in patients with genital endometriosis depending on tolerability of melatonin

2021 ◽  
Vol 70 (4) ◽  
pp. 35-42
Author(s):  
Tatyana E. Ivashchenko ◽  
Maria I. Yarmolinskaya ◽  
Saimat S. Tkhazaplizheva
Keyword(s):  
Genetic Polymorphism ◽  
Rflp Analysis ◽  
Acetylator Phenotype ◽  
Wild Type ◽  
Melatonin Administration ◽  
Pcr Rflp ◽  
Genes Encoding ◽  
Poor Tolerance ◽  
Nat2 Gene ◽  
Rapid Acetylator

BACKGROUND: Genital endometriosis is one of the most pressing problems of modern gynecology. Melatonin is a promising drug with a potentially curative effect on endometriosis. AIM: The aim of this study was to conduct a comparative analysis of the genetic polymorphism of some genes encoding enzymes involved in melatonin metabolism. MATERIALS AND METHODS: The genetic polymorphism in the NAT2 and CYP1B1 genes encoding enzymes involved in melatonin metabolism in patients with different tolerance to this drug was analyzed by PCR-RFLP analysis. RESULTS: In patients with genital endometriosis, the presence of a wild-type allele (N) of the NAT2 gene was associated with poor tolerance of melatonin. The NAT2 (N / N) rapid acetylator phenotype combined with the low catalytic activity of CYP1B1 (C / C) occurred more frequently in endometriosis patients having poor melatonin tolerability compared to the group of patients who tolerated the therapy well. CONCLUSIONS: For patients with genital endometriosis with the wild-type (N) allele of the NAT2 gene, melatonin administration is inappropriate due to numerous side effects during the drug use.

scholarly journals Assessment of Poliovirus Eradication in Japan: Genomic Analysis of Polioviruses Isolated from River Water and Sewage in Toyama Prefecture

2000 ◽  
Vol 66 (11) ◽  
pp. 5087-5091 ◽  
Author(s):  
Kumiko Matsuura ◽  
Mitsuhiro Ishikura ◽  
Hiromu Yoshida ◽  
Takashi Nakayama ◽  
Sumiyo Hasegawa ◽  
...  
Keyword(s):  
Restriction Fragment Length Polymorphism ◽  
River Water ◽  
Viral Genome ◽  
Fragment Length Polymorphism ◽  
Genomic Analysis ◽  
Rflp Analysis ◽  
Wild Type ◽  
Pcr Rflp ◽  
Nucleotide Divergence ◽  
Restriction Fragment Length

ABSTRACT Seventy-eight poliovirus strains isolated from river water and sewage in Toyama Prefecture, Japan, during 1993 to 1995 were characterized by the PCR-restriction fragment length polymorphism (RFLP) method and by partially sequencing the VP3 and VP1 regions of the viral genome. Of these isolates, 36 were identified as Sabin vaccine strains, and 42 were identified as vaccine variant strains that had less than 1.4% nucleotide divergence from the Sabin strains, including 7 isolates with patterns different from those of Sabin strains as determined by PCR-RFLP analysis. These findings suggest that wild-type poliovirus was not circulating in Toyama Prefecture.

scholarly journals Linked Linear Amplification for Simultaneous Analysis of the Two Most Common Hemochromatosis Mutations

2003 ◽  
Vol 49 (7) ◽  
pp. 1050-1057 ◽  
Author(s):  
Anthony A Killeen ◽  
John W Breneman ◽  
Arlene R Carillo ◽  
Jason Liu ◽  
Craig S Hixson
Keyword(s):  
Hereditary Hemochromatosis ◽  
Colorimetric Method ◽  
Rflp Analysis ◽  
Wild Type ◽  
Linear Amplification ◽  
Pcr Rflp ◽  
Homozygous Mutant ◽  
Allele Specific ◽  
Novel Method ◽  
The Common

Abstract Background: Two mutations in HFE, G845A (amino acid substitution C282Y) and C187G (H63D), are associated with hereditary hemochromatosis. We developed and validated a novel method, linked linear amplification (LLA), for detection of these two mutations. Methods: Two segments of HFE were amplified by a multiplex LLA reaction that generated biotinylated LLA products. Aliquots of the multiplex LLA reaction were captured in microwells by hybridization to immobilized allele-specific oligonucleotides (ASOs). One wild-type and one mutant ASO represented the DNA sequence at each of the two mutation sites. Hybridization was detected by a streptavidin–horseradish peroxidase-based colorimetric method. Genotypes obtained by LLA and PCR-restriction fragment length polymorphism (PCR-RFLP) methods for 320 individuals were compared. Results: The amplified samples included the following genotypes as determined by PCR-RFLP: wild-type 282 and 63 codons (n = 105), C282Y homozygous mutant (n = 54), C282Y heterozygous (n = 52), H63D homozygous mutant (n = 17), H63D heterozygous (n = 59), and compound H63D and C282Y heterozygous mutant (n = 33). There was complete concordance between the results obtained by LLA and those obtained by PCR-RFLP analysis. The presence of another HFE mutation, A193T (encoding S65C), did not interfere with genotyping at codon 63. Conclusions: LLA provides a reliable method to detect the common mutations in HFE that cause hereditary hemochromatosis.

scholarly journals The 1B vaccine strain of Chlamydia abortus produces placental pathology indistinguishable from a wild type infection

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0242526
Author(s):  
Sergio Gaston Caspe ◽  
Morag Livingstone ◽  
David Frew ◽  
Kevin Aitchison ◽  
Sean Ranjan Wattegedera ◽  
...  
Keyword(s):  
Vaccine Strain ◽  
Animal Health ◽  
Small Ruminants ◽  
Rflp Analysis ◽  
Whole Genome Sequence ◽  
Wild Type ◽  
Typing Method ◽  
Chlamydia Abortus ◽  
Vaccine Type ◽  
Pcr Rflp

Chlamydia abortus is one of the most commonly diagnosed causes of infectious abortion in small ruminants worldwide. Control of the disease (Enzootic Abortion of Ewes or EAE) is achieved using the commercial live, attenuated C. abortus 1B vaccine strain, which can be distinguished from virulent wild-type (wt) strains by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. Published studies applying this typing method and whole-genome sequence analyses to cases of EAE in vaccinated and non-vaccinated animals have provided strong evidence that the 1B strain is not attenuated and can infect the placenta causing disease in some ewes. Therefore, the objective of this study was to characterise the lesions found in the placentas of ewes vaccinated with the 1B strain and to compare these to those resulting from a wt infection. A C. abortus-free flock of multiparous adult ewes was vaccinated twice, over three breeding seasons, each before mating, with the commercial C. abortus 1B vaccine strain (Cevac® Chlamydia, Ceva Animal Health Ltd.). In the second lambing season following vaccination, placentas (n = 117) were collected at parturition and analysed by C. abortus-specific real-time quantitative PCR (qPCR). Two placentas, from a single ewe, which gave birth to live twin lambs, were found to be positive by qPCR and viable organisms were recovered and identified as vaccine type (vt) by PCR-RFLP, with no evidence of any wt strain being present. All cotyledons from the vt-infected placentas were analysed by histopathology and immunohistochemistry and compared to those from wt-infected placentas. Both vt-infected placentas showed lesions typical of those found in a wt infection in terms of their severity, distribution, and associated intensity of antigen labelling. These results conclusively demonstrate that the 1B strain can infect the placenta, producing typical EAE placental lesions that are indistinguishable from those found in wt infected animals.

Molecular authentication of Thai medicinal plant Khamin khruea by PCR-RFLP analysis

Planta Medica ◽  
2008 ◽  
Vol 74 (09) ◽  
Author(s):  
P Rojsanga ◽  
W Gritsanapan ◽  
W Leelamanit ◽  
S Sukrong
Keyword(s):  
Medicinal Plant ◽  
Rflp Analysis ◽  
Molecular Authentication ◽  
Pcr Rflp

Genetic polymorphism in patients with colorectal and with head and neck cancer

2009 ◽  
Vol 150 (33) ◽  
pp. 1545-1549 ◽  
Author(s):  
András Csejtei ◽  
Antal Tibold ◽  
István Ember ◽  
István Kiss
Keyword(s):  
Head And Neck Cancer ◽  
Genetic Polymorphism ◽  
Head And Neck ◽  
Neck Cancer ◽  
Pcr Rflp ◽  
Xrcc1 Arg194trp

A colorectalis rákok a második leggyakoribb halálokként szerepelnek a rosszindulatú betegségek között. A fej-nyak táji daganatok halálozása Magyarországon 265%-kal emelkedett az utóbbi 30 évben. Nem lehet eléggé hangsúlyozni e két daganatcsoport közegészségügyi jelentőségét. A colorectalis daganatok esetén a GSTM1, GSTT1 enzimek, valamint a p53 72-es kodonjának, fej-nyak táji tumorok esetén az XRCC1 Arg194Trp és Arg399Gln polimorfizmusainak hatását elemeztük. Intraoperatíve eltávolított daganatos és megfelelően illesztett daganatmentes mintákat válogattunk. A formalinban fixált mintákat deparaffinizáltuk és proteináz-K-emésztésnek vetettük alá. A genotipizálást PCR, illetve a fej-nyak táji tumorok esetén PCR-RFLP módszerrel végeztük. A vizsgált allélek gyakoriságában nem volt különbség a daganatos és a kontrollcsoport között. Túlélés tekintetében szignifikáns különbséget találtunk a GSTM1 és a p53 allélek között Dukes B stádiumú colorectalis daganatok esetén és az XRCC1 194 allélek között III-as stádiumú fej-nyak táji tumorokban. A fenti típusú genetikai különbségek szisztematikus vizsgálata a jövőben hozzájárulhat az egyéni rizikóbecslés és az individualizált kezelések megalapozásához.

Genetic and Biochemical Markers of Ovarian Function and Their Impact on Women Reproductive Status

2020 ◽  
Vol 71 (10) ◽  
pp. 212-217
Author(s):  
Adina-Elena Tanase ◽  
Roxana Popescu ◽  
Mircea Onofriescu ◽  
Roxana Daniela Matasariu
Keyword(s):  
Ovarian Function ◽  
Rflp Analysis ◽  
Fsh Receptor ◽  
Gene Encoding ◽  
Female Population ◽  
Fshr Gene ◽  
Pcr Rflp ◽  
Regulation Mechanisms ◽  
American Society ◽  
Dependent Mechanism

Endometriosis is a disease very common nowadays affecting 1-2% of the female population, by estrogen-dependent mechanism. The identification of mutations in the gene encoding for the FSH receptor (FSHR) has been reported since 1995. Physiology teaches us that follicle-stimulating hormone (FSH) is a hormone that is vital in the steroidogenesis regulation mechanisms, while FSH receptor (FSHR) activation helps to promote folliculogenesis and estrogensynthesis. Therefore, studies to show if there are any correlations between endometriosis and FSHR are acquired. Genotyping of FSHR gene polymorphisms were performed using PCR - Restriction Fragment Length Polymorphism (PCR-RFLP) analysis. We analysed a total of 78 patients, 44 infertile patients with endometriosis and 34 controls (non-infertile, pregnant patients). The endometriosis group included women with diagnosis of endo-metriosis confirmed by laparoscopy and /or laparotomy and histological evidence of disease with the endometriosis staging according to American Society for Reproductive Medicine (ASRM). Corroborated with the severity of endometriosis, A919G and A2039G tests found that 71.4% of the M (GG) results were associated with primary infertility, not statistically significant (p=0.994) and 42.9% of the total M results had moderate or severe forms of endometriosis (p = 0.185). The genetic involvement in different pathologies such as endometriosis, has yet to be understood, but knowing more about its mechanism, will help physician target the disease at a more profound level.

scholarly journals Expression and function of the cdgD gene, encoding a CHASE–PAS-DGC-EAL domain protein, in Azospirillum brasilense

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
José Francisco Cruz-Pérez ◽  
Roxana Lara-Oueilhe ◽  
Cynthia Marcos-Jiménez ◽  
Ricardo Cuatlayotl-Olarte ◽  
María Luisa Xiqui-Vázquez ◽  
...  
Keyword(s):  
Azospirillum Brasilense ◽  
Type Strain ◽  
Wild Type Strain ◽  
Soil Conditions ◽  
Wild Type ◽  
Gene Encoding ◽  
Wheat Roots ◽  
Genes Encoding ◽  
In The Wild ◽  
Plant Growth Promoting

AbstractThe plant growth-promoting bacterium Azospirillum brasilense contains several genes encoding proteins involved in the biosynthesis and degradation of the second messenger cyclic-di-GMP, which may control key bacterial functions, such as biofilm formation and motility. Here, we analysed the function and expression of the cdgD gene, encoding a multidomain protein that includes GGDEF-EAL domains and CHASE and PAS domains. An insertional cdgD gene mutant was constructed, and analysis of biofilm and extracellular polymeric substance production, as well as the motility phenotype indicated that cdgD encoded a functional diguanylate protein. These results were correlated with a reduced overall cellular concentration of cyclic-di-GMP in the mutant over 48 h compared with that observed in the wild-type strain, which was recovered in the complemented strain. In addition, cdgD gene expression was measured in cells growing under planktonic or biofilm conditions, and differential expression was observed when KNO3 or NH4Cl was added to the minimal medium as a nitrogen source. The transcriptional fusion of the cdgD promoter with the gene encoding the autofluorescent mCherry protein indicated that the cdgD gene was expressed both under abiotic conditions and in association with wheat roots. Reduced colonization of wheat roots was observed for the mutant compared with the wild-type strain grown in the same soil conditions. The Azospirillum-plant association begins with the motility of the bacterium towards the plant rhizosphere followed by the adsorption and adherence of these bacteria to plant roots. Therefore, it is important to study the genes that contribute to this initial interaction of the bacterium with its host plant.

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