Pyrosequencing represents one of the most thorough methods used to analyze polymorphisms. One advantage of using pyrosequencing for genotyping is the ability to identify not only single-nucleotide polymorphisms (SNPs) but also tri-allelic variations, insertions and deletions (InDels). In contrast to most other genotyping assays the sequence surrounding the polymorphism provides an internal control making this method highly reliable.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1007/978-1-62703-724-2_10 | DOI Listing |
Zhonghua Fu Chan Ke Za Zhi
November 2024
Emergency Department, Foshan Women and Children Hospital, Foshan528200, China.
Front Immunol
June 2021
Laboratory of Molecular Immunopathology, Postgraduate Program in Internal Medicine and Health Sciences, Department of Clinical Pathology, Hospital de Clínicas, Federal University of Paraná, Curitiba, Brazil.
Thousands of leprosy patients not only suffer from physical deformities, but also either have or have had hepatitis B virus (HBV) coinfection. Polymorphisms of the complement system modulate susceptibility to leprosy, but genetic susceptibility to past or present HBV infection is unknown. We used sequencing and multiplex sequence-specific PCR to genotype 72 polymorphisms of seven genes (, ) encoding components of the lectin pathway, and two genes encoding complement receptors () in 190 patients, of which 74 were positive for HBsAg and/or anti-HBc (HBV+, 93.
View Article and Find Full Text PDFMed Image Comput Comput Assist Interv
October 2020
Department of Computer Science and Engineering, University of Notre Dame, Notre Dame, IN 46556, USA.
Craniofacial syndromes often involve skeletal defects of the head. Studying the development of the (the part of the endoskeleton that protects the brain and other sense organs) is crucial to understanding genotype-phenotype relationships and early detection of skeletal malformation. Our goal is to segment craniofacial cartilages in 3D micro-CT images of embryonic mice stained with phosphotungstic acid.
View Article and Find Full Text PDFActa Neuropathol Commun
October 2020
Department of Neuroscience, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, via Mario Negri 2, 20156, Milan, Italy.
The lectin pathway (LP) of complement activation is believed to contribute to brain inflammation. The study aims to identify the key components of the LP contributing to TBI outcome as possible novel pharmacological targets. We compared the long-term neurological deficits and neuropathology of wild-type mice (WT) to that of mice carrying gene deletions of key LP components after experimental TBI.
View Article and Find Full Text PDFArthritis Res Ther
March 2019
Department of Rheumatology, University Hospital Basel, 4031, Basel, Switzerland.
Background: The role of the complement system in the pathogenesis of systemic sclerosis (SSc) is controversial. This study investigated the role of the lectin pathway of complement as a mediator of ischemia/reperfusion injury in SSc.
Methods: This is a prospective observational cross-sectional study of 211 SSc patients and 29 patients with Raynaud's phenomenon in undifferentiated connective tissue disease (UCTD) at risk of developing SSc from two outpatient clinics.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!