Detection of single nucleotide polymorphisms in the mannose-binding lectin gene using minor groove binder-DNA probes

2004 ◽  
Vol 287 (1-2) ◽  
pp. 227-230 ◽  
Author(s):  
Erna Van Hoeyveld ◽  
Frans Houtmeyers ◽  
Caroline Massonet ◽  
Leen Moens ◽  
Marc Van Ranst ◽  
...  
2011 ◽  
Vol 50 (1-2) ◽  
pp. 73-83 ◽  
Author(s):  
Gianfranco Cosenza ◽  
Alfredo Pauciullo ◽  
Andrea Mancusi ◽  
Annalisa D’Avino ◽  
Letizia Colimoro ◽  
...  

2018 ◽  
Vol 5 (1) ◽  
pp. 39-46
Author(s):  
Robert S. Lo ◽  
Andrew S. Austin ◽  
Jan G. Freeman

Mannose-Binding Lectin (MBL) is a member of the collectin family and is an important protein in the immune system. It is a pathogen pattern-recognition molecule that binds to specific carbohydrate motifs on the surface of many pathogens. MBL activates complement via lectin pathway. Single nucleotide polymorphisms in the MBL gene influence serum MBL concentration and function. MBL deficiencies increase the risk of infection and disease-specific complications, especially in those who are already immune compromised with pre-existing conditions. This review discusses the molecular genetics of human MBL and the association of MBL polymorphisms with liver diseases including liver fibrosis, viral hepatitis B, viral hepatitis C, and infection post-liver transplantation.


Diagnostics ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 301
Author(s):  
Jana Mrazkova ◽  
Petr Sistek ◽  
Jan Lochman ◽  
Lydie Izakovicova Holla ◽  
Zdenek Danek ◽  
...  

Mannose-binding lectin (MBL) deficiency caused by the variability in the MBL2 gene is responsible for the susceptibility to and severity of various infectious and autoimmune diseases. A combination of six single nucleotide polymorphisms (SNPs) has a major impact on MBL levels in circulation. The aim of this study is to design and validate a sensitive and economical method for determining MBL2 haplogenotypes. The SNaPshot assay is designed and optimized to genotype six SNPs (rs1800451, rs1800450, rs5030737, rs7095891, rs7096206, rs11003125) and is validated by comparing results with Sanger sequencing. Additionally, an algorithm for online calculation of haplogenotype combinations from the determined genotypes is developed. Three hundred and twenty-eight DNA samples from healthy individuals from the Czech population are genotyped. Minor allele frequencies (MAFs) in the Czech population are in accordance with those present in the European population. The SNaPshot assay for MBL2 genotyping is a high-throughput, cost-effective technique that can be used in further genetic-association studies or in clinical practice. Moreover, a freely available online application for the calculation of haplogenotypes from SNPs is developed within the scope of this project.


2003 ◽  
Vol 160 (8) ◽  
pp. 913-920 ◽  
Author(s):  
Yourong Chai ◽  
Yongzhen Pang ◽  
Zhihua Liao ◽  
L.e.i. Zhang ◽  
Xiaofen Sun ◽  
...  

Author(s):  
Saulo Gomes de Oliveira ◽  
Ilana Brito Ferraz de Souza ◽  
Taynan da Silva Constantino ◽  
Paula Carolina Valença Silva ◽  
Elker Lene Santos de Lima ◽  
...  

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