Detection of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by polymerase chain reaction with sequence-specific primers.

@article{Steffensen2000DetectionOS,
  title={Detection of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by polymerase chain reaction with sequence-specific primers.},
  author={Rudi M Steffensen and Steffen Thiel and Kim Varming and Casper Jersild and J C Jensenius},
  journal={Journal of immunological methods},
  year={2000},
  volume={241 1-2},
  pages={33-42}
}
This study describes a new approach to the determination of all known mannan-binding lectin (MBL) mutations. The distribution of known variants of the MBL gene in a population of healthy unrelated Danes was determined and the genotype was correlated with the plasma MBL concentrations. The following genetic polymorphisms were studied: three point mutations in the promoter region at position -550 (H/L variants), -221 (X/Y variants), -70 (nt C or T), one point mutation in the 5' untranslated (UT… CONTINUE READING
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