Affiliations: Biocenter Oulu, Oulu, Finland | Department of Paediatrics, University of Oulu, Oulu,
Finland | Department of Paediatrics and Medical School,
University of Tampere, Tampere, Finland
Note: [] MD, PhD, Department of Paediatrics, University of Oulu,
Kajaanintie 50, Fin-90220 Oulu, Finland. Fax: +358 8 315 5559; E-mail:
[email protected]
Abstract: Lung surfactant lowers the surface tension but surfactant proteins
also have other functions. Surfactant protein A (SP-A) has a well-defined role
in innate immunity. The gene locus for human SP-A genes is in chromosome 10q21
through q24 and consists of two highly homologous functional SP-A genes (SP-A1
and SP-A2) and a pseudogene. Several alleles that differ by a single amino acid
have been identified for both SP-A genes. The SP-A gene locus has been shown to
be sufficiently polymorphic for genetic studies in the American population. In
this study, we analysed the SP-A allele frequencies in a Finnish population
(n = 790) and found them to differ from the frequencies
observed in US. Furthermore, we describe several new alleles for both SP-A
genes. The heterozygosity indices and polymorphism information content values
ranged between 0.50--0.62 indicating that SP-A gene locus is polymorphic enough
for studies associating the locus with pulmonary diseases.
Keywords: surfactant, protein-A, genetics
Journal: Disease Markers, vol. 16, no. 3-4, pp. 119-124, 2000
