Human surfactant protein--A gene locus for genetic studies in the Finnish population

Dis Markers. 2000;16(3-4):119-24. doi: 10.1155/2000/914814.

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.

Publication types

  • Comparative Study

MeSH terms

  • Alleles
  • Chromosomes, Human, Pair 10 / genetics*
  • Codon / genetics
  • Finland / epidemiology
  • Gene Frequency
  • Genes
  • Genetic Markers
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Infant, Newborn
  • Lung Diseases / epidemiology
  • Lung Diseases / genetics
  • Polymorphism, Genetic
  • Protein Isoforms / genetics*
  • Proteolipids / genetics*
  • Pseudogenes
  • Pulmonary Surfactant-Associated Protein A
  • Pulmonary Surfactant-Associated Proteins
  • Pulmonary Surfactants / genetics*
  • United States

Substances

  • Codon
  • Genetic Markers
  • Protein Isoforms
  • Proteolipids
  • Pulmonary Surfactant-Associated Protein A
  • Pulmonary Surfactant-Associated Proteins
  • Pulmonary Surfactants
  • SFTPA1 protein, human
  • SFTPA2 protein, human