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Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method

(1997) HAEMOSTASIS. 27(5). p.228-236
Author
Organization
Abstract
Hereditary protein S deficiency is a risk factor for developing recurrent venous thromboembolic disease and is caused by a defect in the protein S 1 (PROS I) gene. Identification of the mutation in the PROS 1 gene can overcome diagnostic uncertainty in family members with borderline protein S levels. We describe a novel nonisotopic method for molecular diagnosis of protein S deficiency, using fluorescein-labeled amplification and sequencing primers. As a first step, all exons of the PROS1 gene are selectively amplified, and heteroduplex analysis is performed. As a second step, all exons are analyzed by direct sequencing. Using this method, we have characterized the molecular defect in two Belgian families with hereditary protein S deficiency type I: a frameshift mutation in exon XIV (1881insTC) and a missense mutation caused by a T-to-C transition, resulting in substitution of Leu405 by Pro (L405P).
Keywords
PROS1, DNA, thrombotic disease, thrombophilia, POINT MUTATIONS, MESSENGER-RNA, GENE, ORGANIZATION, CLONING, PSEUDOGENE, CDNA

Citation

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MLA
Messiaen, Ludwine, T Callens, and Gaston Baele. “Identification of Two Different Mutations Causing Protein S Deficiency in Two Unrelated Belgian Families Using a Nonisotopic Scanning and Sequencing Method.” HAEMOSTASIS 27.5 (1997): 228–236. Print.
APA
Messiaen, L., Callens, T., & Baele, G. (1997). Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method. HAEMOSTASIS, 27(5), 228–236.
Chicago author-date
Messiaen, Ludwine, T Callens, and Gaston Baele. 1997. “Identification of Two Different Mutations Causing Protein S Deficiency in Two Unrelated Belgian Families Using a Nonisotopic Scanning and Sequencing Method.” Haemostasis 27 (5): 228–236.
Chicago author-date (all authors)
Messiaen, Ludwine, T Callens, and Gaston Baele. 1997. “Identification of Two Different Mutations Causing Protein S Deficiency in Two Unrelated Belgian Families Using a Nonisotopic Scanning and Sequencing Method.” Haemostasis 27 (5): 228–236.
Vancouver
1.
Messiaen L, Callens T, Baele G. Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method. HAEMOSTASIS. 1997;27(5):228–36.
IEEE
[1]
L. Messiaen, T. Callens, and G. Baele, “Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method,” HAEMOSTASIS, vol. 27, no. 5, pp. 228–236, 1997.
@article{178974,
  abstract     = {Hereditary protein S deficiency is a risk factor for developing recurrent venous thromboembolic disease and is caused by a defect in the protein S 1 (PROS I) gene. Identification of the mutation in the PROS 1 gene can overcome diagnostic uncertainty in family members with borderline protein S levels. We describe a novel nonisotopic method for molecular diagnosis of protein S deficiency, using fluorescein-labeled amplification and sequencing primers. As a first step, all exons of the PROS1 gene are selectively amplified, and heteroduplex analysis is performed. As a second step, all exons are analyzed by direct sequencing. Using this method, we have characterized the molecular defect in two Belgian families with hereditary protein S deficiency type I: a frameshift mutation in exon XIV (1881insTC) and a missense mutation caused by a T-to-C transition, resulting in substitution of Leu405 by Pro (L405P).},
  author       = {Messiaen, Ludwine and Callens, T and Baele, Gaston},
  issn         = {0301-0147},
  journal      = {HAEMOSTASIS},
  keywords     = {PROS1,DNA,thrombotic disease,thrombophilia,POINT MUTATIONS,MESSENGER-RNA,GENE,ORGANIZATION,CLONING,PSEUDOGENE,CDNA},
  language     = {eng},
  number       = {5},
  pages        = {228--236},
  title        = {Identification of two different mutations causing protein S deficiency in two unrelated Belgian families using a nonisotopic scanning and sequencing method},
  volume       = {27},
  year         = {1997},
}

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