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

American Journal of Respiratory Cell and Molecular Biology

Volumn 15, Issue 4, 1996, Pages 489-498

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

^a ALLEGHENY SINGER RESEARCH INSTITUTE   (United States)

^b PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; LUNG SURFACTANT; PROTEOLIPID; SFTPA1 PROTEIN, HUMAN; SFTPA2 PROTEIN, HUMAN; SURFACTANT ASSOCIATED PROTEIN; SURFACTANT PROTEIN A;

ADULT; ALLELE; ARTICLE; GENE FREQUENCY; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETICS; HUMAN; NEWBORN; PEDIGREE;

ADULT; ALLELES; BIOLOGICAL MARKERS; GENE FREQUENCY; HUMANS; INFANT, NEWBORN; LINKAGE (GENETICS); PEDIGREE; POLYMORPHISM, GENETIC; PROTEOLIPIDS; PULMONARY SURFACTANT-ASSOCIATED PROTEIN A; PULMONARY SURFACTANT-ASSOCIATED PROTEINS; PULMONARY SURFACTANTS;

EID: 0030265941     PISSN: 10441549     EISSN: None     Source Type: Journal    
DOI: 10.1165/ajrcmb.15.4.8879183     Document Type: Article

References (26)

1. Possmayer, F. 1988. Pulmonary perspective: a proposed nomenclature for pulmonary surfactant-associated proteins. Am. Rev. Respir. Dis. 138: 990-998.
2. Bruns, G., H. Stroh, G. M. Veldman, S. A. Latt, and J. Floros. 1987. The 35 kd pulmonary surfactant-associated protein is encoded on chromosome 10. Hum. Genet. 76:58-62.
3. Katyal, S. L., G. Singh, and J. Locker. 1992. Characterization of a second human pulmonary surfactant-associated protein SP-A gene. Am. J. Respir. Cell Mol. Biol. 6:446-452.
4. White, R. T., D. Damm, J. Miller, K. Spratt, J. Schilling, S. Hawgood, B. Benson, and B. Cordell. 1985. Isolation and characterization of the human pulmonary surfactant apoprotein gene. Nature 317:361-363.
5. Korfhagen, T. R., S. W. Glasser, M. D. Bruno, M. J. McMahan, and J. A. Whitsett. 1991. A portion of the human surfactant protein A (SP-A) gene locus consists of a pseudogene. Am. J. Respir. Cell Mol. Biol. 4:463-469.
6. Karinch, A. M., and J. Floros. 1995. 5′ splicing and allelic variants of the human pulmonary surfactant protein A genes. Am. J. Respir. Cell Mol. Biol. 12:77-88.
7. Floros, J., and A. M. Karinch. 1995. Human SP-A: then and now. Am. J. Physiol. 268(Lung Cell. Mol. Physiol. 12):L162-L165.
8. McCormick, S. M., V. Boggaram, and C. R. Mendelson. 1994. Characterization of mRNA transcripts and organization of human SP-A1 and SP-A2 genes. Am. J. Physiol. 266(Lung Cell. Mol. Physiol. 10):L354-L366.
9. Floros, J., D. S. Phelps, and H. W. Taeusch. (1985) Biosynthesis and in vitro translation of the major surfactant-associated protein from human lung. J. Biol. Chem 260:495-500.
10. Phelps, D. S., J. Floros, and H. W. Taeusch, Jr. 1986. Post-translational modification of the major human surfactant-associated proteins. Biochem. J. 237:373-377.
11. Voss, T., K. Melchers, G. Scheirle, and K. P. Schafer. 1991. Structural comparison of recombinant pulmonary surfactant protein SP-A derived from two human coding sequences: implications for the chain composition of natural human SP-A. Am. J. Respir. Cell Mol. Biol. 4:88-94.
12. Haagsman, H. P., R. T. White, J. Schilling, K. Lau, B. J. Benson, J. Golden, S. Hawgood, and J. A. Clemens. 1989. Studies of the structure of lung surfactant protein SP-A. Am. J. Physiol. 257(Lung Cell Mol. Physiol. 1):L421-L429.
13. Floros, J., R. Steinbrink, K. Jacobs, D. Phelps, R. Kriz, L. Sultzman, M. Recny, S. Jones, H. W. Taeusch, H. A. Frank, and E. F. Fritsch. 1986. Isolation and characterization of cDNA clones for the 35kDa pulmonary surfactant associated protein (PSP-A). J. Biol. Chem. 261:9029-9033.
14. Rishi, A., D. Hatzis, K. McAlmon, and J. Floros. 1992. An allelic variant of the 6A gene for human surfactant protein A. Am. J. Physiol. 262(Lung Cell. Mol. Physiol. 6):L566-L573.
15. Ott, J. 1992. Strategies for characterizing highly polymorphic markers in human gene mapping. Am. J. Hum. Genet. 51:283-290.
16. Terwillinger, J. D., and J. Ott. 1994. Handbook of Human Genetic Linkage. The Johns Hopkins University Press. Baltimore, MD. 188-210.
17. Beaudet, A. L., G. L. Feldman, S. D. Fernbach, G. J. Buffone, and W. E. O'Brien. 1989. Linkage disequilibrium, cystic fibrosis and genetic counseling. Am. J. Hum. Genet. 44:319-326.
18. Botstein, D., R. L. White, M. H. Skolnick, and R. W. Davis. 1980. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am. J. Hum. Genet. 32:314-331.
19. Floros, J., D. S. Phelps, D. E. deMello, J. Longmate, H. Harding, B. Benson, and T. White. 1991. The utility of postmortem lung for RNA studies: variability and correlation of the expression of surfactant proteins in human lung. Exp. Lung Res. 17:91-104.
20. Hatzis, D., G. Deiter, D. E. deMello, and J. Floros. 1994. Human surfactant protein-C: genetic homogeneity and expression in RDS; comparison with other species. Exp. Lung Res. 20:57-72.
21. Okano, Y., R. C. Eisensmith, F. Guttler, V. Lichter-Konecki, D. S. Koneck, F. K. Trefz, M. Dasovich, T. Wnag, K. Henricksen, H. Lou, and S. L. C. Woo. 1991. Molecular basis of pheontypic heterogeneity in phenylketonuria. N. Engl. J. Med. 324:1232-1238.
22. Collins, F. S. 1992. Cystic fibrosis: Molecular biology and therapeutic implications. Science 256:774-779.
23. Powars, D., and A. Hiti. 1993. Sickle cell anemia, b5 gene cluster haplotypes as genetic markers for severe disease expression. Am. J. Dis. Child. 147:1197-1202.
24. Weber, J. L. 1990. Human DNA polymorphisms based on length variations in simple-sequence tandem repeals. In Genome Analysis, Vol. 1: Genetic and Physical Mapping. K. E. Davies and S. M. Tilghman, editors. Cold Spring Harbor Laboratory Press, Cold Spring Harbor. New York. 159-181.
25. Veletza, S. V., P. K. Rogan, T. TenHave, S. A. Olowe, and J. Floros. 1996. Racial differences in allelic distribution at the human pulmonary surfactant protein B locus (SP-B). Exp. Lung Res. 22:489-494.
26. Krizkova, L., R. Sakthivel, S. A. Olowe, P. Rogan, and J. Floros. 1994. Human SP-A: genotype and single strand conformation polymorphism analysis. Am. J. Physiol. 266(Lung Cell. Mol. Physiol. 10):L519-L527.