Literature DB >> 1969488

Linkage analysis of five fibrillar collagen loci in a large French Marfan syndrome family.

C Boileau1, G Jondeau, C Bonaiti, M Coulon, G Delorme, O Dubourg, J P Bourdarias, C Junien.   

Abstract

Marfan syndrome consists of a group of dominantly inherited disorders of connective tissue with wide clinical variability. Using the candidate gene approach, we have attempted to map the gene defect in a large French Marfan syndrome family with no ocular manifestations. We performed linkage studies with polymorphic probes for five structural procollagen genes. The data obtained exclude linkage of Marfan syndrome to the two major fibrillar collagen (COL1A1, COL1A2, and COL2A1) genes. These results confirm previously published data obtained from smaller pedigrees. A small positive lod score (Z = 0.99, theta = 0.00) was obtained for the COL3A1-COL5A2 gene cluster located on chromosome 2.

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Year:  1990        PMID： 1969488      PMCID： PMC1016924          DOI： 10.1136/jmg.27.2.78

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  20 in total

1.  Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

Authors:  D J Ogilvie; B P Wordsworth; L M Priestley; R Dalgleish; J Schmidtke; B Zoll; B C Sykes
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

2.  Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.

Authors:  P Tsipouras; A L Børresen; S Bamforth; P S Harper; K Berg
Journal:  Clin Genet       Date:  1986-11       Impact factor: 4.438

3.  A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1983-07-01       Impact factor: 3.365

4.  An RFLP associated with the human type III collagen gene (COL3A1).

Authors:  R Dalgleish; M Woodhouse; S Reeders
Journal:  Nucleic Acids Res       Date:  1985-06-25       Impact factor: 16.971

5.  The pro alpha 2(V) collagen gene (COL5A2) maps to 2q14----2q32, syntenic to the pro alpha 1 (III) collagen locus (COL3A1).

Authors:  C Huerre-Jeanpierre; I Henry; M Bernard; P Gallano; D Weil; K H Grzeschik; F Ramirez; C Junien
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

6.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

7.  Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

Authors:  R Dalgleish; J R Hawkins; M Keston
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

8.  Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2.

Authors:  B S Emanuel; L A Cannizzaro; J M Seyer; J C Myers
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

9.  Osteogenesis imperfecta is linked to both type I collagen structural genes.

Authors:  B Sykes; D Ogilvie; P Wordsworth; N Jones
Journal:  Lancet       Date:  1986-07-12       Impact factor: 79.321

10.  Detection of a high frequency RsaI polymorphism in the human pro alpha 2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta.

Authors:  A F Grobler-Rabie; G Wallis; D K Brebner; P Beighton; A J Bester; C G Mathew
Journal:  EMBO J       Date:  1985-07       Impact factor: 11.598
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  9 in total

1.  A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

Authors:  M Sarfarazi; P Tsipouras; R Del Mastro; M Kilpatrick; P Farndon; M Boxer; A Bridges; C Boileau; C Junien; C Hayward
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

2.  Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Authors:  D M Milewicz; R E Pyeritz; E S Crawford; P H Byers
Journal:  J Clin Invest       Date:  1992-01       Impact factor: 14.808

3.  Reply to "The question of heterogeneity in Marfan syndrome"

Authors:  Catherine Boileau; Claudine Junien; Gwenaëlle Collod; Guillaume Jondeau; Olivier Dubourg; Jean-Pierre Bourdarias; Catherine Bonaïti-Pellié; Jean Frezal; Pierre Maroteaux
Journal:  Nat Genet       Date:  1995-03       Impact factor: 38.330

4.  An exclusion map of Marfan syndrome.

Authors:  S H Blanton; M Sarfarazi; H Eiberg; J de Groote; P A Farndon; M W Kilpatrick; A H Child; F M Pope; L Peltonen; C A Francomano
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

5.  Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

Authors:  C Boileau; G Jondeau; M C Babron; M Coulon; J A Alexandre; L Sakai; J Melki; G Delorme; O Dubourg; C Bonaïti-Pellié
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

6.  Molecular heterogeneity: a clinical dilemma. Clinical heterogeneity: a molecular dilemma.

Authors:  M Godfrey
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

7.  Marfan syndrome or Marfan-like connective-tissue disorder.

Authors:  D M Gilchrist
Journal:  Am J Hum Genet       Date:  1994-03       Impact factor: 11.025

8.  Marfan syndrome affecting four generations of a family without ocular involvement.

Authors:  A B Bridges; M Faed; M Boxer; W M Haining; T H Pringle; G P McNeill
Journal:  Postgrad Med J       Date:  1991-06       Impact factor: 2.401

9.  A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

Authors:  G Collod; M C Babron; G Jondeau; M Coulon; J Weissenbach; O Dubourg; J P Bourdarias; C Bonaïti-Pellié; C Junien; C Boileau
Journal:  Nat Genet       Date:  1994-11       Impact factor: 38.330
  9 in total

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