Human SP-A Locus: Allele Frequencies and Linkage Disequilibrium between the Two Surfactant Protein A Genes

Joanna Floros, Susan DiAngelo, Michael Koptides, Anne M. Karinch, Peter K. Rogan, Heber Nielsen, Roger G. Spragg, Kristi Watterberg, Gina Deiter

Research output: Contribution to journalArticle

60 Citations (Scopus)

Abstract

Two surfactant protein A (SP-A) genes and several alleles for each SP-A locus have been previously described. In this report we investigate the potential usefulness of the SP-A loci as markers for genetic studies. We establish conditions that allow the identification of alleles with very similar sequences; We also determine the degree of polymorphism for each SP-A locus: The heterozygosity and polymorphism information content (PIC) values for the SP-A1 locus are 0.63 and 0.55, respectively, and for the SP-A2 locus are 0.50 and 0.56. In the course of these studies, we identify one new SP-A2 allele and show that the SP-A1 and SP-A2 loci are in linkage disequilibrium (P < 0.000001). We also identify 19 of the 20 possible haplotypes in a population of n = 239. Nine of the observed haplotypes reach statistical significance (P < 0.01) in this population, and the segregation of two haplotypes (6A2/1A0 and 6A4/1A) without recombination is verified in a family pedigree. These data together indicate that both SP-A loci are sufficiently polymorphic to be good markers for use in genetic studies. Furthermore, the finding of one novel allele suggests that additional unknown SP-A alleles are yet to be found.

Original languageEnglish (US)
Pages (from-to)489-498
Number of pages10
JournalAmerican journal of respiratory cell and molecular biology
Volume15
Issue number4
DOIs
StatePublished - Jan 1 1996

Fingerprint

vif Genes
Pulmonary Surfactant-Associated Protein A
Linkage Disequilibrium
Gene Frequency
Surface-Active Agents
Genes
Alleles
varespladib methyl
Haplotypes
Proteins
Polymorphism
Pedigree
Genetic Markers
Genetic Recombination
Population

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Pulmonary and Respiratory Medicine
  • Clinical Biochemistry
  • Cell Biology

Cite this

Floros, Joanna ; DiAngelo, Susan ; Koptides, Michael ; Karinch, Anne M. ; Rogan, Peter K. ; Nielsen, Heber ; Spragg, Roger G. ; Watterberg, Kristi ; Deiter, Gina. / Human SP-A Locus : Allele Frequencies and Linkage Disequilibrium between the Two Surfactant Protein A Genes. In: American journal of respiratory cell and molecular biology. 1996 ; Vol. 15, No. 4. pp. 489-498.
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Human SP-A Locus : Allele Frequencies and Linkage Disequilibrium between the Two Surfactant Protein A Genes. / Floros, Joanna; DiAngelo, Susan; Koptides, Michael; Karinch, Anne M.; Rogan, Peter K.; Nielsen, Heber; Spragg, Roger G.; Watterberg, Kristi; Deiter, Gina.

In: American journal of respiratory cell and molecular biology, Vol. 15, No. 4, 01.01.1996, p. 489-498.

Research output: Contribution to journalArticle

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T1 - Human SP-A Locus

T2 - Allele Frequencies and Linkage Disequilibrium between the Two Surfactant Protein A Genes

AU - Floros, Joanna

AU - DiAngelo, Susan

AU - Koptides, Michael

AU - Karinch, Anne M.

AU - Rogan, Peter K.

AU - Nielsen, Heber

AU - Spragg, Roger G.

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AU - Deiter, Gina

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