Characterization of markers flanking the human SP-B locus

Disease Markers

Volumn 13, Issue 3, 1997, Pages 153-167

  Kala, Padma ^a   Koptides, Michael ^a   Diangelo, Susan ^a   Hoover, Russell R ^a   Lin, Zhenwu ^a   Veletza, Vouliana ^a   Kouretas, Demetrios ^a   Floros, Joanna ^a,b  

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

^b PENN STATE COLLEGE OF MEDICINE   (United States)

Author keywords

CEPH families; Microsatellite markers; RDS; SP B haplotypes

Indexed keywords

DNA MARKER; LUNG SURFACTANT; MICROSATELLITE DNA;

ALLELE; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; GENE LOCUS; GENETIC LINKAGE; HAPLOTYPE; HETEROZYGOSITY; HUMAN; LUNG FUNCTION; MARKER GENE; POPULATION RESEARCH; PRIORITY JOURNAL;

EID: 0030862161     PISSN: 02780240     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (71)

1. Abeliovich, D., Lavon, I.P., Lerer, I., Cohen, T., Springer, C., Avital, A., Cutting, G.R. (1992). Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am. J. Hum. Genet., 51, 951-956.
2. Andrew, S., Theilmann, J., Almqvist, E., Norremolle, A., Lucotte, G., Anvret, M., Sorensen, S.A., Turpin, J.C., Hayden, M.R. (1993). DNA analysis of distinct populations suggest multiple origins for the mutation causing Huntington disease. Clin. Genet., 43, 286-294.
3. Avery, M.E., Mead, J. (1959). Surface properties in relation to atelectasis and hyaline membrane disease. Am. J. Dis. Child., 97, 517-523.
4. Ballard, P.L., Nogec, L.M., Beers, M.F., Ballard, R.A., Planer, B.C., Polk, L., deMello, D.E., Moxley, M.A., Longmore, W.J. (1995). Partial deficiency of surfactant protein B in an infant with chronic lung disease. Pediatrics, 96, 1046-1052.
5. Berrettini, W.H., Ferraro., T.N., Goldin, L.R., Weeks, D.K., Detera-Wadleigh, S., Nurnberger, J.I., Gershon, E.S. (1994). Chromosome 18 DNA markers and manic-depressive illness: Evidence for a susceptibility gene. Proc. Natl. Acad. Sci. USA, 91, 5918-5921.
6. Chida, S., Phelps, D.S., Cordle, C., Soll, R., Floros, J., Taeusch, H.W. (1988). Surfactant-associated proteins in tracheal aspirates of infants with respiratory distress syndrome after surfactant therapy. Am. Rev. Resp. Dis., 137, 943-947.
7. Clark, J.C., Weaver, T.E., Iwamoo, H.S., Ikegami, M., Jobe, A.H., Hull, W.M., Whitsett, J.A. (1997). Decreased lung compliance and air trapping in heterozygous SP-B-deficient mice. Am. J. Respir. Cell Mol. Biol., 16, 46-52.
8. Clark, J.C., Wert, S.E., Bachurski, C.J., Stahlman, M.T., Stripp, B.R., Weaver, T.E., Whitsett, J.A. (1995). Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice. Proc. Natl. Acad. Sci. USA, 92, 7794-7798.
9. Collaborative Study on the Genetics of Asthma (CSGA). (1997). A genome-wide search for asthma susceptibility loci in ethnically diverse populations. Nature Genet., 15, 389-392.
10. Copeman, J.B., Cucca, F., Hearne, C.M., Cornall, R.J., Reed, P.W., Ronningen, K.S., Undlien, D.E., Nistico, L., Buzzetti, R., Tosi, R., Pociot, F., Nerup, J., Corenlis, F., Barnett, A.H., Bain, S.C., Todd, J.A. (1995). Linkage disequilibrium mapping of a type 1 diabetes susceptibility gene (IDDM7) to chromosome 2q31-q33. Nature Genet., 9, 80-85.
11. Cox, D.R., Burmeister, M., Price, E.R., Kims, S., Myers, R.M. (1990). Radiation hybrid mapping: a somatic cell genetic method for construction high-resolution maps of mammalian chromosomes. Science, 250, 245-250.
12. Daniels, S.E., Battacharrya, S., James, A., Leaves, N.I., Young, A., Hill, M.R., Faux, J.A., Ryan, G.F., le Söuef, P.N., Lathrop, G.M., Musk, A. W., Cookson, W.O.C.M. (1996). A genome-wide search for quantitative trait loci underlying asthma. Nature, 383, 247-250.
13. Davies, J.L., Kawaguchi, Y., Bennett, S.T., Copeman, J.B., Cordell, H.J., Pritchard, L.E, Ree, P.W., Cough, S.C.L., Jenkins, S.C., Palmer, S.M., Balfour, K.M., Rowe, B.R., Farrall, M., Barnett, A.H., Bain, S.C., Todd, J.A. (1994). A genome-wide search for human type 1 diabetes susceptibility genes. Nature, 371, 130-136.
14. n polymorphisms in world populations. Am. J. Hum. Genet., 56,461-474.
15. deMello, D.E., Hayman, S., Phelps, D., Floros, J. (1993). Immunolocalization of SP-A in lungs of infants dying from respiratory distress syndrome. Am. J. Pathol., 142, 1631-1640.
16. deMello, D.E., Nogee, L.M., Hayman, S., Krous, J.F., Hussain, M., Merrit, A., Hsueh, W., Haas, J.E., Heidelberger, K., Schumacher, R., Colten, H.R. (1994). Molecular and phenotypic variability in the congenital alveolar proteinosis syndrome associated with inherited surfactant protein B deficiency. J. Pediatr., 125, 43-50.
17. deMello, D.E., Phelps, D.S., Patel, G., Floros, J., Lagunoff, D. (1989). Expression of the 35kDa and low molecular weight surfactant-associated proteins in the lungs of infants dying with respiratory distress syndrome. Am. J. Pathol., 134, 1285-1293.
18. Dib, C., Faure, S., Fizames, C., Samson, D., Drouot, N., Vignal, A., Millasseau, P., Marc, S., Hazan, J., Seboun, E., Lathrop, M., Gyapay, G., Morissette, J., Weissenbach, J. (1996). A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 380, 152-154.
19. Edwards, A., Mammon, H.A., Jin, L., Caskey, C.T., Chakraborty, R. (1992). Genetic variation at five trimeric and tetrameric tandem repeat loci in four human population groups. Genomics, 12, 241-253.
20. Evans, A.E., Zhang, W., Moreel, J.F.R, Baard, J.M., Ricard, S., Poirier, O., Tiret, L., Fruchart, J.C., Cambien, F. (1993). Polymorphisms of the apolipoprotein B and E genes and their relationship to plasma lipid variables in healthy Chinese men. Hum. Genet., 92, 191-197.
21. Farrell, P.M., Wood, R.E. (1976). Epidemiology of hyaline membrane disease in the United States: analysis of national mortality statistics. Pediatrics, 58, 167-176.
22. Field, D.J., Milner, A.D., Hopkin, I.E., Madeley, R.J. (1987). Changing patterns in neonatal respiratory distress. Pediatr. Pulmonol., 3, 231-235.
23. Floros, J., Kala, P. (1997). Surfactant proteins: Molecular genetics of neonatal pulmonary diseases. Annual Review of Physiology 60, in press.
24. Floros, J., Karinch, A.M. (1995a). Human SP-A: then and now. Am. J. Physiol., 268 (Lung Cell. Mol. Physiol. 12), L162-L165.
25. Floros, J., Phelps, D.S. (1997). Pulmonary surfactant. In: Biebuyck, J.F., Lynch, C., Maze, M., Saidman, J., Yaksh, T.L., Zapol, W.M. (Eds). Anesthesia: Biologic Foundations. Lipincott-Raven, pp. 1257-1279.
26. Floros, J., Veletza, S.V., Kotikalapudi, P., Krizkova, L., Karinch, A.M., Friedman, C., Buchter, S., Marks, K. (1995b). Dinucleotide repeats in the human surfactant protein B gene and respiratory distress syndrome. Biochem. J., 305, 583-590.
27. Graven, S.N., Mesenheimer, H.R. (1965). Respiratory distress syndrome and the high risk mother. Am. J. Child. Dis., 109, 489-494.
28. Graven, S.N., Opitz, J.M., Harrison, M. (1966). The respiratory distress syndrome: risk related to maternal factors. Am. J. Obstet. Gynecol., 96, 969-976.
29. Hallman, D.M., Boerwinkle, E., Saha, N., Sandholzer, C., Menzel, H.J., Csázár, A., Utermann, G. (1991). The apolipoprotein E polymorphism: A comparison of allele frequencies and effects in nine populations. Am. J. Hum. Genet., 49, 338-349.
30. Hashimoto, L., Habita, C., Beressl, J.P., Delepine, M., Besse, C., Cambon-Thomsen, A., Deschamps, I., Rotter, J.I., Sjoulah, S., James, M.R., Froguel, P., Weissenbach, J., Lathrop, G.M., Juller, C. (1994). Genetic mapping of a susceptibility locus for insulin-dependent diabetes mellitus on chromosomre 11q. Nature, 371, 161-164.
31. Hillier, L., Clark, N., Dubuque, T., Elliston, K., Hawkins, M., Holman, M., Hultman, M., Kucaba, T., Le, M., Lennon, G., Mara, M., Parsons, J., Rifkin, L., Rohlfing, T., Tan, F., Trevaskis, E., Wterston, R., Williamson, A., Wohldmann, P., Wilson, R. (1995). Washington University School of Medicine/Merck EST Project.
32. Hoover, R.R., Floros, J. (1997). Organization of the human SP-A and SP-D loci at 10q22-23 physical and radiation hybrid mapping reveal gene orientation. Am. J. of Respir. Cell and Mol. Biol., in press.
33. Huff, V., Jaffe, N., Saunders, G.F., Strong, L.C., Villalba, F., Ruteshouser, E.C. (1995). WTI exon I deletion/insertion mutations in wilms tumor patents, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences. Am. J. Hum. Genet., 56, 84-90.
34. Hugot, J.P., Laurent-Puig, P., Gower-Rousseau, C., Olson, J.M., Lee, J.C., Beagerie, L., Naom, I., Dupas, J.L., Gossum, A.V., Groupe d-Etude Therapeutique des Affections Inflammatoires Digestives, Orholm, M., Bonaiti-Pellie, C., Weissenbach, J., Mathew, C.G., Lennard-Jones, J.E., Cortot, A., Colombel, J.-F., Thomas, G. (1996). Mapping of susceptibility locus for Crohn's disease on chromosome 16. Nature. 379, 821-823.
35. Jeunemaitre, X., Soubrier, F., Kotelevtsev, Y.V., Lifton, R.P., Williams, C.S., Charru, A., Hunt, S.C., Hopkins, P.N., Williams, R.R., Laouel, J.M., Carrol, P. (1992). Molecular basis of human hypertension: Role of angiotensinogen. Cell. 71, 169-180.
36. Julier, C., Hyer, R.N., Davios, J., Merlin, F., Soularue, P., Briant, L., Cathelineau, G., Deschamps, I., Rotter, J.I., Froguel, P., Boitard, C., Bell, J.I., Lathrop, G.M. (1991). Insulin-IGF2 region on chromosome 11p encodes a gene implicated in HLA-DR 4-dependent diabetes susceptibility. Nature. 354, 155-159.
37. Kala, P., TenHave, T., Nielsen, H., Dunn, M., Floros, J. (1997). Association of pulmonary surfactant protein A (SP-A) gene and RDS: Interaction with SP-B. Ped. Res., submitted.
38. Kan, Y.W., Dozy, A.M. (1978). Polymorphism of DNA sequence adjacent to human β-globin structural gene: Relationship to sickle mutation. PNAS, 75, 5631-5635.
39. Kerem, B.S., Rommens, J.M., Buchanan, J.A., Markiewicz, D., Cox, T.K., Chakravarti, A., Buchwald, M., Tsui, L.C. (1989). Identification of the cystic fibrosis gene: Genetic analysis. Science, 245, 1073-1080.
40. Kerem, E., Rave-Harel, N., Augarten, A., Madgar, I., Nissim-Rafinia, M., Yahav, Y., Goshen, R., Bentur, L., Rivlin, J., Aviram, M., Genem, A., Chiba-Falek, O., Kraemer, M.R., Simon, A., Branski, D., Kerem, B. (1997). A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations. Am. J. Respir. Crit. Care Med., 155, 1914-1920.
41. Kobayashi, T., Nitta, K., Takahashi, R., Kurashima, K., Robertson, B., Suzuki, Y. (1991). Activity of pulmonary surfactant after blocking the associated proteins SP-A and SP-B. J. Appl. Physiol., 71, 530-536.
42. Lander, E.S., Schork, N.J. (1994). Genetic dissection of complex traits. Science, 265, 2037-2048.
43. Lange, K., Boehnke, M., Cox, D. R., Lunetta, K.L. (1995). Statistical methods for polyploid radiation hybrid mapping. Genome Res., 5, 1236-1250.
44. Lankenau, H.M. (1976). A genetic and statistical study of the respiratory distress syndrome. Eur. J. Pediatr., 123, 167-177.
45. Lunetta, K.L., Boehnke, M., Lange, K., Cox, D.R. (1996). Selected locus and multiple panel models for radiation hybrid mapping. Am. J. Hum. Genet., 59, 717-725.
46. Mehta, C., Patel, N. (1995). StatXact 3 fur Windows User Manual, Cytel Software Corp., Cambridge.
47. Morral, N., Nunes, V., Casals, T., Estivill, X. (1991). CA/GT microsatellite alleles within the cystic fibrosis transmembrane conductance regulator (CFTR) gene are not generated by unequal crossingover. Genomics. 10, 692-698.
48. Myrianthopoulos, N.C., Churchill, J.A., Baszynski, A.J. (1971). Respiratory distress syndrome in twins. Acta Genet. Med. Gemellol. Roma, 20, 199-204.
49. Nogee, L.M., deMello, D.E., Dehner, L.P., Colten, H.R. (1993). Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis. New Engl. J. Med., 328, 406-410.
50. Ober, C., Lester, L.A., Mott, C., Brillstrand, C., Lemke, A., van der Ven, K., Marchs, S., Kraut, J., Lloyd-Still, J., Booth, C. (1992). Ethnic heterogeneity and cystic fibrosis transmembrane regulator (CFTR) mutation frequencies in Chicago-area CF families. Am. J. Hum. Genet., 51, 1344-1348.
51. Ott, J. (1992). Strategies for characterizing highly polymorphic markers in human gene mapping. Am. J. Hum. Genet., 51, 283-290.
52. Pagnier, J., Mears, J.G., Dunda-Belkhodja, O., Schaefer-Rego, K.E., Beldjord, C., Nagel, R.L., Labie, D. (1984). Evidence of the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc. Natl. Acad. Sci. USA, 81, 1771-1773.
53. Pericak-Vance, M.A., Bebout, J.L., Gaskell, Jr., P.C., Yamaoka, L.U., Hung, W.Y., Alberts, M.J., Walker, A.P., Bartlelt, R.J., Hanes, C.A., Welsh, K.A. (1991). Linkage studies in familial Alzheimer disease: Evidence for chromosome 19 linkage. Am. J. Hum. Genet., 48, 1034-1050.
54. Pilot-Malias, T.J., Kister, S.E., Fox, J.F., Kropp, K., Glasser, S.W., Whitsett, J.A. (1989). Structure and organisation of the gene encoding human pulmonary surfactant proteolipid SP-B. DNA, 8, 75-86.
55. Possmayer, F. (1988). Pulmonary perspective: A proposed nomenclature for pulmonary surfactant-associated proteins. Am. Rev. Respir. Dis., 138, 990-998.
56. Purandare, S.M., Cawthon, R., Nelson, L.M., Sawada, S., Watkins, W.S., Ward, K., Jorde, L.B., Viskochil, D.H. (1996). Genotyping of PCR-based polymorphisms and linkage-disequilibrium analysis at the NF1 locus. Am. J. Hum. Genet., 59, 159-166.
57. Risch, N., Merikangas, K. (1996). The future of genetic studies of complex human disease. Science, 273, 1516-1517.
58. Robertson, R., Kobayashi, T., Ganzuka, M., Grossmann, G., Li, W.Z., Suzuki, Y. (1991). Experimental neonatal respiratory failure induced by a monoclonal antibody to the hydrophobic surfactant-associated protein SP-B. Pediatr. Res., 30, 239-243.
59. Rund, D., Cohen, T., Filon, D., Dowling, C.E., Warren, T.C., Barak, I., Rachmilewitz, E., Kazazian, H.H., Oppenheim, A. (1991). Evolution of genetic disease in an ethnic isolate: β-Thalassemia in the Jews of Kurdistan. Proc. Natl. Acad. Sci. USA, 88, 310-314.
60. Saunders, A.M., Strittmatter, W.J., Schmechel, D., St. George-Hyslop, P.H., Pericack-Vance, M.A., Joo, S.H., Rosi, B.L., Gusella, J.F., Crapper-MacLaclan, D.R., Alberts, M.J., Hulette, C., Crain, B., Goldgaber, D., Roses, A.D. (1993). Association of apolipoprotein E allele ε4 with late-onset familial and sporadic Alzheimer's disease. Neurology, 43, 1467-1472.
61. Schellenberg, G.D., Bird, T.D., Wijsman, E.M., Orr, H.T., Anderson, L., Nemens, E., White, J.A., Bonnycastle, L., Weber, J.L., Alonso, M.E., Potter, H., Heston, L.L., Martin, G.M. (1992). Genetic linkage evidence for a familial Alzheimer's Disease locus on chromosome 14. Science, 258, 668-671.
62. Spielman, R.S., McGinnis, R.E., Ewens, W.J. (1993). Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet., 52, 506-516.
63. Thomas, G.R., Forbes, J.R., Roberts, E.A., Walshe, J.M., Cox, D.W. (1995). The Wilson disease gene: Spectrum of mutations and their consequences. Nature Genetics, 9, 210-217.
64. Thomas, G.R., Forbes, J.R., Roberts, E.A., Walshe, J.M., Cox, D.W. (1995a). The Wilson disease gene: Spectrum of mutations and their consequences. Nature Genetics, 9, 210-217.
65. Thomas, G.R., Roberts, E.A., Walshe, J.M., Cox, D.W. (1995b). Haplotypes and mutations in Wilson disease. Am. J. Hum. Genet., 56, 1315-1319.
66. Tishkoff, S. Dietzsch, E., Speed, W., Pakstis, A., Cheung, K., Kidd, J., Bonne-Tamir, B., Santachiara-Benerecetti, A.S., Moral, P., Kring, S.M., Paabo, S., Watson, E., Risch, N., Jenkinns, T., Kidd, K.K. (1996). Global patterns of linkage disequilibrium at the cD4 locus support a recent African origin of non-African humans. Science, 271, 1380-1387.
67. Usher, R.H., Allen, A.C., McLean, F.H. (1971). Risk of respiratory distress syndrome related to gestational age, route of delivery and maternal diabetes. Am. J. Obstet. Gynecol., 111, 826-832.
68. Vamvakopoulos, N.C., Modi, S., Floros, J. (1995). Mapping the human pulmonary surfactant-associated protein B gene (SFTP3). to chromosome 2p12→p11.2. Cytogenet. Cell Genet., 68, 8-10.
69. Veletza, S.V., Rogan, P.K., Tenhave, T., Olowe, S.A., Floros, J. (1996). Racial differences in allelic distribution at the human pulmonary surfactant protein B gene locus (SP-B). Exp. Lung Res., 22, 489-494.
70. Wang, S., Sun, C., Walczak, C.A., Ziegle, J.S., Kipps, B.R., Goldin, L.R., Diehl, S.R. (1995). Evidence for a susceptibility locus for schizophrenia on chromosome 6pter-p22. Nature Genetics, 10, 41-46.
71. Zielenski, J., Markiewicz, D., Rninsland, F., Rommens, J., Tsui, L.C. (1991). A cluster of highly polymorphic dinucleotide repeats in intro 17b of the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Am. J. Hum. Genet., 49, 1256-1262.