Abstract
Genetic polymorphisms are genetic variants with a population frequency for the rare variant of at least one percent. These genetic variants may contribute directly to the pathogenesis of the disorder or may act as a marker. Polymorphisms may therefore play a direct or indirect role for many disorders. A typical example may be the congenital deficiency of mannose-binding lectin (MBL). MBL is essential for opsonisation of capsid carrying bacteria and yeast and plays an important role for infantile immunity. About 5-10% of the Austrian population carry polymorphisms in the MBL-2 gene that lead to a measurable MBL deficiency. This deficiency leads to increased susceptibility of meningococcal and pneumococcal infection mainly during early infancy. The reliable analysis of polymorphisms using molecular genetic techniques allows estimation of disease risk and sometimes initiation of preventive measures. In case of MBL deficiency vaccination will prevent meningococcal and pneumococcal disease.
| Original language | German |
|---|---|
| Pages (from-to) | 659-664 |
| Number of pages | 6 |
| Journal | Padiatrische Praxis |
| Volume | 66 |
| Issue number | 4 |
| State | Published - Jun 1 2005 |
Fingerprint
Keywords
- Allele
- Mannose-binding-lectin
- Polymorphisms
- Predisposition
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
Genetische Polymorphismen und Prädisposition. / Ratschmann, R.; Bodamer, Olaf A.
In: Padiatrische Praxis, Vol. 66, No. 4, 01.06.2005, p. 659-664.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genetische Polymorphismen und Prädisposition
AU - Ratschmann, R.
AU - Bodamer, Olaf A.
PY - 2005/6/1
Y1 - 2005/6/1
N2 - Genetic polymorphisms are genetic variants with a population frequency for the rare variant of at least one percent. These genetic variants may contribute directly to the pathogenesis of the disorder or may act as a marker. Polymorphisms may therefore play a direct or indirect role for many disorders. A typical example may be the congenital deficiency of mannose-binding lectin (MBL). MBL is essential for opsonisation of capsid carrying bacteria and yeast and plays an important role for infantile immunity. About 5-10% of the Austrian population carry polymorphisms in the MBL-2 gene that lead to a measurable MBL deficiency. This deficiency leads to increased susceptibility of meningococcal and pneumococcal infection mainly during early infancy. The reliable analysis of polymorphisms using molecular genetic techniques allows estimation of disease risk and sometimes initiation of preventive measures. In case of MBL deficiency vaccination will prevent meningococcal and pneumococcal disease.
AB - Genetic polymorphisms are genetic variants with a population frequency for the rare variant of at least one percent. These genetic variants may contribute directly to the pathogenesis of the disorder or may act as a marker. Polymorphisms may therefore play a direct or indirect role for many disorders. A typical example may be the congenital deficiency of mannose-binding lectin (MBL). MBL is essential for opsonisation of capsid carrying bacteria and yeast and plays an important role for infantile immunity. About 5-10% of the Austrian population carry polymorphisms in the MBL-2 gene that lead to a measurable MBL deficiency. This deficiency leads to increased susceptibility of meningococcal and pneumococcal infection mainly during early infancy. The reliable analysis of polymorphisms using molecular genetic techniques allows estimation of disease risk and sometimes initiation of preventive measures. In case of MBL deficiency vaccination will prevent meningococcal and pneumococcal disease.
KW - Allele
KW - Mannose-binding-lectin
KW - Polymorphisms
KW - Predisposition
UR - http://www.scopus.com/inward/record.url?scp=21344440004&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=21344440004&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:21344440004
VL - 66
SP - 659
EP - 664
JO - Padiatrische Praxis
JF - Padiatrische Praxis
SN - 0030-9346
IS - 4
ER -