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Human surfactant protein--A gene locus for genetic studies in the Finnish population.
- Source :
-
Disease markers [Dis Markers] 2000; Vol. 16 (3-4), pp. 119-24. - Publication Year :
- 2000
-
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.
- Subjects :
- Alleles
Codon genetics
Finland epidemiology
Gene Frequency
Genes
Genetic Markers
Genotype
Haplotypes genetics
Humans
Infant, Newborn
Lung Diseases epidemiology
Lung Diseases genetics
Polymorphism, Genetic
Pseudogenes
Pulmonary Surfactant-Associated Protein A
Pulmonary Surfactant-Associated Proteins
United States
Chromosomes, Human, Pair 10 genetics
Protein Isoforms genetics
Proteolipids genetics
Pulmonary Surfactants genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0278-0240
- Volume :
- 16
- Issue :
- 3-4
- Database :
- MEDLINE
- Journal :
- Disease markers
- Publication Type :
- Academic Journal
- Accession number :
- 11381191
- Full Text :
- https://doi.org/10.1155/2000/914814