Μελέτη πολυμορφισμών στα γονίδια του συστήματος του συμπληρώματος C2,C3 και Bf που ενέχονται στην ανάπτυξη της ηλικιακής εκφύλισης της ωχράς κηλίδας στον ελληνικό πληθυσμό

Allele Frequency ◽

Area Under The Curve ◽

Chain Reaction ◽

Σκοπός της μελέτης είναι να διευκρινιστεί, εάν οι πολυμορφισμοί των γονιδίων C2, C3 και CFB του συμπληρώματος είναι σημαντικοί γενετικοί καθοριστές της ηλικιακής εκφύλισης της ωχράς (AMD ) στον Ελληνικό πληθυσμό. Μέθοδοι. Διεξήχθη μια μελέτη συσχέτισης ασθενών μαρτύρων που περιλάμβανε 120 Έλληνες ασθενείς με πρώιμο και προχωρημένο στάδιο της AMD και 140 ανεξάρτητους μάρτυρες Καυκάσιας προέλευσης. Όλοι οι συμμετέχοντες γονοτυπήθηκαν για τους πολυμορφισμούς rs2230199 (C3 R102G), rs547154 (C2 IVS10), rs641153 (CFB R32Q) και rs12614 (CFB R32W) με έναν συνδυασμό αλυσιδωτής αντίδρασης πολυμεράσης [Polymerase Chain Reaction (PCR)], κατάτμησης με ένζυμα περιορισμού [RFLP] και άμεσης αλληλούχισης DNA. Αποτελέσματα. Η συχνότητα του ‘G’ αλληλίου του SNP του γονιδίου C3 rs2230199 (C3 R102G C>G) [ελάσσονος αλληλίου:minor allele frequency (MAF)], ήταν σημαντικά υψηλότερη στους ασθενείς με AMD σε σύγκριση με τους μάρτυρες (0.34 έναντι 0.22, P=0.0031) και παρόμοια με τη συχνότητα άλλων πληθυσμών που έχουν ήδη δημοσιευτεί. Υπήρχε σημαντική διαφορά στις συχνότητες των rs2230199 γονοτύπων ανάμεσα σε ασθενείς και μάρτυρες (p=0.0055). Ο SNP rs2230199 βρέθηκε να είναι ένας σημαντικός προβλεπτικός παράγοντας για την προχωρημένη AMD (OR=6.41, CI 2.72-15.09, P>0,00001) Area under the Curve (AUC= 0.706, CI 0.61-0.78, P<0.0001). Για τους SNPs rs547154 (C2 IVS10), rs641153 (CFB R32Q) και rs12614 (CFB R32W) των γονιδίων C2/CFB, οι αλληλικές και γονοτυπικές συχνότητες δεν ανέδειξαν στατιστική σημαντικότητα. Η MAF στους μάρτυρες και στους ασθενείς ήταν παρόμοια και πολύ χαμηλότερη από τις συχνότητες που έχουν αναφερθεί σε άλλες μελέτες για άλλους πληθυσμούς. Συμπεράσματα. Οι SNPs rs547154 (C2 IVS10), rs641153 (CFB R32Q) και rs12614 (CFB R32W) των γονιδίων C2/CFB του συμπληρώματος δεν συσχετίστηκαν με την ανάπτυξη AMD σε Έλληνες ασθενείς. Παρόλα αυτά, αυτό το εύρημα πρέπει να αντιμετωπίζεται με προσοχή καθώς οι συγκεκριμένοι πολυμορφισμοί, παρουσιάζονται με πολύ χαμηλές συχνότητες στον ελληνικό πληθυσμό. Τέλος, η αναπαραγωγή των αναφερόμενων συσχετισμών του SNP του C3 rs2230199 (C3 R102G C>G) με την ηλικιακή εκφύλιση της ωχράς κηλίδας, υποδηλώνει ότι η παρουσία του ‘G’ αλληλίου θα μπορούσε ίσως να αποτελεί γενετικό δείκτη υψηλού κινδύνου για την ανάπτυξη της AMD και την εξέλιξη της ασθένειας στο προχωρημένο κλινικό στάδιο και στον Ελληνικό πληθυσμό.

Estimation of single-nucleotide polymorphism allele frequency by alternately binding probe competitive polymerase chain reaction

Analytica Chimica Acta ◽

10.1016/j.aca.2007.12.015 ◽

2008 ◽

Vol 608 (2) ◽

pp. 211-216 ◽

Cited By ~ 6

Author(s):

Naohiro Noda ◽

Hidenori Tani ◽

Nao Morita ◽

Shinya Kurata ◽

Kazunori Nakamura ◽

...

Keyword(s):

Single Nucleotide Polymorphism ◽

Allele Frequency ◽

Single Nucleotide Polymorphism Allele ◽

Nucleotide Polymorphism ◽

Chain Reaction ◽

Competitive Polymerase Chain Reaction ◽

Single Nucleotide ◽

Application of droplet digital polymerase chain reaction of plasma methylated septin 9 on detection and early monitoring of colorectal cancer

Scientific Reports ◽

10.1038/s41598-021-02879-8 ◽

2021 ◽

Vol 11 (1) ◽

Author(s):

Zhi Yao Ma ◽

Cherry Sze Yan Chan ◽

Kam Shing Lau ◽

Lui Ng ◽

Yuen Yee Cheng ◽

...

Keyword(s):

Colorectal Cancer ◽

Area Under The Curve ◽

Quantitative Detection ◽

Chain Reaction ◽

Septin 9 ◽

Non Invasive ◽

Polymerase Chain ◽

Digital Polymerase Chain Reaction

AbstractMethylated septin 9 (SEPT9) has been approved for non-invasive screening of colorectal cancer (CRC), but data on monitoring of CRC is sparse. Droplet digital polymerase chain reaction (ddPCR), with higher detection precision and simpler quantification than conventional PCR, has not been applied in SEPT9 detection. We explored the role of SEPT9 ddPCR for CRC detection and to measure serial SEPT9 levels in blood samples of CRC patients before and 3-month after surgery. SEPT9 methylated ratio, methylated abundance, and CEA levels were all higher in CRC patients than normal controls (all P < 0.05). The area under the curve (AUC) for methylated ratio and abundance to detect CRC was 0.707 and 0.710, respectively. There was an increasing trend for SEPT9 methylated abundance from proximal to distal cancers (P = 0.017). At 3-month after surgery, both methylated abundance and ratio decreased (P = 0.005 and 0.053, respectively), especially methylated abundance in stage III and distal cancer (both P < 0.01). We have developed a ddPCR platform for the quantitative detection of plasma SEPT9 in CRC patients. SEPT9 methylated abundance had an early post-operative decline, which may be useful in monitoring of treatment response.

Clinical Utilization of DiaSorin Molecular Polymerase Chain Reaction in Pneumocystis Pneumonia

Open Forum Infectious Diseases ◽

10.1093/ofid/ofab634 ◽

2022 ◽

Vol 9 (1) ◽

Author(s):

Gregory L Damhorst ◽

Kari J Broder ◽

Elizabeth C Overton ◽

Ronelio Rara ◽

Lindsay M Busch ◽

...

Keyword(s):

Clinical Decision Making ◽

Area Under The Curve ◽

Treatment Decision ◽

Clinical Decision ◽

Pneumocystis Pneumonia ◽

Pneumocystis Jirovecii ◽

Chain Reaction ◽

Significant Difference ◽

Abstract Background Pneumocystis jirovecii polymerase chain reaction (PCR) testing is a sensitive diagnostic tool but does not distinguish infection from colonization. Cycle threshold (CT) may correlate with fungal burden and could be considered in clinical decision making. Clinical use of PCR and significance of CT values have not previously been examined with the DiaSorin Molecular platform. Methods Retrospective review of P jirovecii PCR, CT values and clinical data from 18 months in a multihospital academic health system. The diagnostic performance of PCR with respect to pathology and correlation of CT with severity were examined. Results Ninety-nine of 1006 (9.8%) assays from 786 patients in 919 encounters were positive. Among 91 (9.9%) encounters in which P jirovecii pneumonia (PJP) was treated, 41 (45%) were influenced by positive PCR. Negative PCR influenced discontinuation of therapy in 35 cases. Sensitivity and specificity of PCR were 93% (95% CI, 68%–100%) and 94% (95% CI, 91%–96%) with respect to pathology. CT values from deep respiratory specimens were significantly different among treated patients (P = .04) and those with positive pathology results (P < .0001) compared to patients not treated and those with negative pathology, respectively, and was highly predictive of positive pathology results (area under the curve = 0.92). No significant difference was observed in comparisons based on indicators of disease severity. Conclusions Pneumocystis jirovecii PCR was a highly impactful tool in the diagnosis and management of PJP, and use of CT values may have value in the treatment decision process in select cases. Further investigation in a prospective manner is needed.

Pulmonary CYP1A1 and CYP1A2 levels and activities in adult male and female offspring of rats exposed during gestation and lactation to 2,3,7,8-tetrachlorodibenzo-p-dioxin11Abbreviations: AhR, aryl hydrocarbon receptor; ARNT, AhR nuclear translocator; AUC, area under the curve; B[a]P, benzo[a]pyrene; CYP1A, used to include CYP1A1 and CYP1A2; EROD, ethoxyresorufin O-deethylase; GAPDH, glyceraldehyde-3-phosphate dehydrogenase; MeIQ, 2-amino-3,4-dimethylimidazo[4,5-f]quinoline; PCR, polymerase chain reaction; PhIP, 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine; and TCDD, 2,3,7,8-tetrachlorodibenzo-p-dioxin.

Biochemical Pharmacology ◽

10.1016/s0006-2952(01)00721-3 ◽

2001 ◽

Vol 62 (5) ◽

pp. 617-626 ◽

Cited By ~ 1

Author(s):

Michael M. Iba ◽

Jacqueline Fung

Keyword(s):

Aryl Hydrocarbon Receptor ◽

Adult Male ◽

Area Under The Curve ◽

Female Offspring ◽

Chain Reaction ◽

Male And Female ◽

Pcr Polymerase Chain Reaction ◽

Aryl Hydrocarbon ◽

Allele frequency distribution of the D1S80 (pMCT118) locus polymorphism in the Japanese population by the polymerase chain reaction

International Journal of Legal Medicine ◽

10.1007/bf01225228 ◽

1993 ◽

Vol 106 (3) ◽

pp. 111-114 ◽

Cited By ~ 25

Author(s):

Eiko Sugiyama ◽

Katsuya Honda ◽

Yoshihiko Katsuyama ◽

Shigeharu Uchiyama ◽

Akira Tsuchikane ◽

...

Keyword(s):

Allele Frequency ◽

Frequency Distribution ◽

Japanese Population ◽

Allele Frequency Distribution ◽

Chain Reaction ◽

Human Platelet Antigen Alleles in 998 Taiwanese Blood Donors Determined by Sequence-Specific Primer Polymerase Chain Reaction

BioMed Research International ◽

10.1155/2013/973789 ◽

2013 ◽

Vol 2013 ◽

pp. 1-5 ◽

Cited By ~ 6

Author(s):

Shun-Chung Pai ◽

Thierry Burnouf ◽

Jen-Wei Chen ◽

Liang-In Lin

Keyword(s):

Allele Frequency ◽

Human Platelet ◽

Specific Primer ◽

Chain Reaction ◽

Platelet Antigen ◽

Human Platelet Antigen ◽

Polymerase Chain ◽

Primer Polymerase Chain Reaction ◽

Antigen Frequency

Polymorphism of human platelet antigens (HPAs) leads to alloimmunizations and immune-mediated platelet disorders including fetal-neonatal alloimmune thrombocytopenia (FNAIT), posttransfusion purpura (PTP), and platelet transfusion refractoriness (PTR). HPA typing and knowledge of antigen frequency in a population are important in particular for the provision of HPA-matched blood components for patients with PTR. We have performed allele genotyping for HPA-1 through -6 and -15 among 998 platelet donors from 6 blood centers in Taiwan using sequence-specific primer polymerase chain reaction. The HPA allele frequency was 99.55, and 0.45% for HPA-1a and -1b; 96.49, and 3.51% for HPA-2a and -2b; 55.81, and 44.19% for HPA-3a and -3b; 99.75, and 0.25% for HPA-4a and -4b; 98.50, and 1.50% for HPA-5a and -5b; 97.75 and 2.25% for HPA-6a and -6b; 53.71 and 46.29% for HPA-15a and -15b. HPA-15b and HPA-3a, may be considered the most important, followed by HPA-2, -6, -1, -5, and -4 systems, as a cause of FNAIT, PTP, and PTR based on allele frequency. HPA-4b and HPA-5b role cannot be excluded based on their immunogenicity. A larger-scale study will now be conducted to confirm these hypotheses and to establish an apheresis donor database for the procurement of HPA-matched apheresis platelets for patients with PTR.

High performance Nanogold™-in situ hybridzation and its use in the detection of hybridized and PCR-amplified microscopical preparations

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100166944 ◽

1996 ◽

Vol 54 ◽

pp. 896-897

Author(s):

G. W. Hacker ◽

I. Zehbe ◽

J. Hainfeld ◽

A.-H. Graf ◽

C. Hauser-Kronberger ◽

...

Keyword(s):

Messenger Rna ◽

High Performance ◽

Detection System ◽

Direct Methods ◽

Genetic Alterations ◽

Chain Reaction ◽

Protein Encoding ◽

In situ hybridization (ISH) with biotin-labeled probes is increasingly used in histology, histopathology and molecular biology, to detect genetic nucleic acid sequences of interest, such as viruses, genetic alterations and peptide-/protein-encoding messenger RNA (mRNA). In situ polymerase chain reaction (PCR) (PCR in situ hybridization = PISH) and the new in situ self-sustained sequence replication-based amplification (3SR) method even allow the detection of single copies of DNA or RNA in cytological and histological material. However, there is a number of considerable problems with the in situ PCR methods available today: False positives due to mis-priming of DNA breakdown products contained in several types of cells causing non-specific incorporation of label in direct methods, and re-diffusion artefacts of amplicons into previously negative cells have been observed. To avoid these problems, super-sensitive ISH procedures can be used, and it is well known that the sensitivity and outcome of these methods partially depend on the detection system used.