Dinucleotide repeats in the human surfactant protein B gene and respiratory-distress syndrome

J. Floros, S. V. Veletza, P. Kotikalapudi, L. Krizkova, A. M. Karinch, C. Friedman, S. Buchter, K. Marks

Research output: Contribution to journalArticle

79 Citations (Scopus)

Abstract

Pulmonary surfactant, a lipoprotein complex, is essential for normal lung function, and deficiency of surfactant can result in respiratory-distress syndrome (RDS) in the prematurely born infant. Some studies have pointed towards a genetic contribution to the aetiology of RDS. Because the surfactant protein B (SP-B) is important for optimal surfactant function and because it is involved in the pathogenesis of pulmonary disease, we investigated the genetic variability of the SP-B gene in individuals with and without RDS. We identified a 2.5 kb BamHI polymorphism and studied its location, nature and frequency. We localized this polymorphism in the first half of intron 4 and found that it is derived by gain or loss in the number of copies of a motif that consists of two elements, a 20 bp conserved sequence and a variable number of CA dinucleotides. Variability in the number of motifs resulting from either deletion (in 55.3% of the cases with the variation) or insertion (44.7%) of motifs was observed in genomic DNAs from unrelated individuals. Analysis of 219 genomic DNAs from infants with (n = 82) and without (n = 137) RDS showed that this insertion/deletion appears with significantly higher frequency in the RDS population (29.3 as against 16.8%, P < 0.05).

Original languageEnglish (US)
Pages (from-to)583-590
Number of pages8
JournalBiochemical Journal
Volume305
Issue number2
StatePublished - Jan 1 1995

Fingerprint

Dinucleotide Repeats
Surface-Active Agents
Genes
Polymorphism
Pulmonary Surfactants
Pulmonary diseases
DNA
Introns
Conserved Sequence
Lipoproteins
Lung Diseases
IgA receptor
Lung
Population

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Floros, J., Veletza, S. V., Kotikalapudi, P., Krizkova, L., Karinch, A. M., Friedman, C., ... Marks, K. (1995). Dinucleotide repeats in the human surfactant protein B gene and respiratory-distress syndrome. Biochemical Journal, 305(2), 583-590.
Floros, J. ; Veletza, S. V. ; Kotikalapudi, P. ; Krizkova, L. ; Karinch, A. M. ; Friedman, C. ; Buchter, S. ; Marks, K. / Dinucleotide repeats in the human surfactant protein B gene and respiratory-distress syndrome. In: Biochemical Journal. 1995 ; Vol. 305, No. 2. pp. 583-590.
@article{01e5f400ecdd4e35bfe333d1bf524707,
title = "Dinucleotide repeats in the human surfactant protein B gene and respiratory-distress syndrome",
abstract = "Pulmonary surfactant, a lipoprotein complex, is essential for normal lung function, and deficiency of surfactant can result in respiratory-distress syndrome (RDS) in the prematurely born infant. Some studies have pointed towards a genetic contribution to the aetiology of RDS. Because the surfactant protein B (SP-B) is important for optimal surfactant function and because it is involved in the pathogenesis of pulmonary disease, we investigated the genetic variability of the SP-B gene in individuals with and without RDS. We identified a 2.5 kb BamHI polymorphism and studied its location, nature and frequency. We localized this polymorphism in the first half of intron 4 and found that it is derived by gain or loss in the number of copies of a motif that consists of two elements, a 20 bp conserved sequence and a variable number of CA dinucleotides. Variability in the number of motifs resulting from either deletion (in 55.3{\%} of the cases with the variation) or insertion (44.7{\%}) of motifs was observed in genomic DNAs from unrelated individuals. Analysis of 219 genomic DNAs from infants with (n = 82) and without (n = 137) RDS showed that this insertion/deletion appears with significantly higher frequency in the RDS population (29.3 as against 16.8{\%}, P < 0.05).",
author = "J. Floros and Veletza, {S. V.} and P. Kotikalapudi and L. Krizkova and Karinch, {A. M.} and C. Friedman and S. Buchter and K. Marks",
year = "1995",
month = "1",
day = "1",
language = "English (US)",
volume = "305",
pages = "583--590",
journal = "Biochemical Journal",
issn = "0264-6021",
publisher = "Portland Press Ltd.",
number = "2",

}

Floros, J, Veletza, SV, Kotikalapudi, P, Krizkova, L, Karinch, AM, Friedman, C, Buchter, S & Marks, K 1995, 'Dinucleotide repeats in the human surfactant protein B gene and respiratory-distress syndrome', Biochemical Journal, vol. 305, no. 2, pp. 583-590.

Dinucleotide repeats in the human surfactant protein B gene and respiratory-distress syndrome. / Floros, J.; Veletza, S. V.; Kotikalapudi, P.; Krizkova, L.; Karinch, A. M.; Friedman, C.; Buchter, S.; Marks, K.

In: Biochemical Journal, Vol. 305, No. 2, 01.01.1995, p. 583-590.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Dinucleotide repeats in the human surfactant protein B gene and respiratory-distress syndrome

AU - Floros, J.

AU - Veletza, S. V.

AU - Kotikalapudi, P.

AU - Krizkova, L.

AU - Karinch, A. M.

AU - Friedman, C.

AU - Buchter, S.

AU - Marks, K.

PY - 1995/1/1

Y1 - 1995/1/1

N2 - Pulmonary surfactant, a lipoprotein complex, is essential for normal lung function, and deficiency of surfactant can result in respiratory-distress syndrome (RDS) in the prematurely born infant. Some studies have pointed towards a genetic contribution to the aetiology of RDS. Because the surfactant protein B (SP-B) is important for optimal surfactant function and because it is involved in the pathogenesis of pulmonary disease, we investigated the genetic variability of the SP-B gene in individuals with and without RDS. We identified a 2.5 kb BamHI polymorphism and studied its location, nature and frequency. We localized this polymorphism in the first half of intron 4 and found that it is derived by gain or loss in the number of copies of a motif that consists of two elements, a 20 bp conserved sequence and a variable number of CA dinucleotides. Variability in the number of motifs resulting from either deletion (in 55.3% of the cases with the variation) or insertion (44.7%) of motifs was observed in genomic DNAs from unrelated individuals. Analysis of 219 genomic DNAs from infants with (n = 82) and without (n = 137) RDS showed that this insertion/deletion appears with significantly higher frequency in the RDS population (29.3 as against 16.8%, P < 0.05).

AB - Pulmonary surfactant, a lipoprotein complex, is essential for normal lung function, and deficiency of surfactant can result in respiratory-distress syndrome (RDS) in the prematurely born infant. Some studies have pointed towards a genetic contribution to the aetiology of RDS. Because the surfactant protein B (SP-B) is important for optimal surfactant function and because it is involved in the pathogenesis of pulmonary disease, we investigated the genetic variability of the SP-B gene in individuals with and without RDS. We identified a 2.5 kb BamHI polymorphism and studied its location, nature and frequency. We localized this polymorphism in the first half of intron 4 and found that it is derived by gain or loss in the number of copies of a motif that consists of two elements, a 20 bp conserved sequence and a variable number of CA dinucleotides. Variability in the number of motifs resulting from either deletion (in 55.3% of the cases with the variation) or insertion (44.7%) of motifs was observed in genomic DNAs from unrelated individuals. Analysis of 219 genomic DNAs from infants with (n = 82) and without (n = 137) RDS showed that this insertion/deletion appears with significantly higher frequency in the RDS population (29.3 as against 16.8%, P < 0.05).

UR - http://www.scopus.com/inward/record.url?scp=0028812185&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028812185&partnerID=8YFLogxK

M3 - Article

C2 - 7832777

AN - SCOPUS:0028812185

VL - 305

SP - 583

EP - 590

JO - Biochemical Journal

JF - Biochemical Journal

SN - 0264-6021

IS - 2

ER -

Floros J, Veletza SV, Kotikalapudi P, Krizkova L, Karinch AM, Friedman C et al. Dinucleotide repeats in the human surfactant protein B gene and respiratory-distress syndrome. Biochemical Journal. 1995 Jan 1;305(2):583-590.