title: Human surfactant protein--A gene locus for genetic studies in the Finnish population.
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.
authors.affiliation: Biocenter Oulu, Oulu, Finland.
authors.forename: M
authors.initials: M
authors.lastname: Rämet
authors.forename: R
authors.initials: R
authors.lastname: Haataja
authors.forename: R
authors.initials: R
authors.lastname: Marttila
authors.forename: A M
authors.initials: AM
authors.lastname: Hämäläinen
authors.forename: M
authors.initials: M
authors.lastname: Knip
authors.forename: M
authors.initials: M
authors.lastname: Hallman
mesh_terms: D000483:Alleles; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D003062:Codon / Q000235:genetics; D005387:Finland / Q000453:epidemiology; D005787:Gene Frequency; D005796:Genes; D005819:Genetic Markers; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008171:Lung Diseases / Q000453:epidemiology / Q000235:genetics; D011110:Polymorphism, Genetic; D020033:Protein Isoforms / Q000235:genetics*; D011510:Proteolipids / Q000235:genetics*; D011544:Pseudogenes; D037662:Pulmonary Surfactant-Associated Protein A; D037661:Pulmonary Surfactant-Associated Proteins; D011663:Pulmonary Surfactants / Q000235:genetics*; D014481:United States
chemical_list: D003062:Codon; D005819:Genetic Markers; D020033:Protein Isoforms; D011510:Proteolipids; D037662:Pulmonary Surfactant-Associated Protein A; D037661:Pulmonary Surfactant-Associated Proteins; D011663:Pulmonary Surfactants; C445842:SFTPA1 protein, human; C445843:SFTPA2 protein, human