Literature DB >> 3997150

Lethal osteogenesis imperfecta and a collagen gene deletion. Length polymorphism provides an alternative explanation.

B C Sykes, D J Ogilvie, B P Wordsworth.   

Abstract

A 300 base pair deletion near the 3'-end of the gene encoding Type II (cartilage) collagen has been implicated in the pathogenesis of perinatal lethal osteogenesis imperfecta. We have found similar deletions occurring at a high frequency in normal Asian Indian and West Indian populations generated by a length polymorphism just beyond the 3'-end of the gene. We suggest that this polymorphism provides an alternative explanation of the original results.

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Year:  1985        PMID： 3997150     DOI： 10.1007/bf00389455

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  6 in total

1.  Identification and characterization of the human type II collagen gene (COL2A1).

Authors:  K S Cheah; N G Stoker; J R Griffin; F G Grosveld; E Solomon
Journal:  Proc Natl Acad Sci U S A       Date:  1985-05       Impact factor: 11.205

2.  DNA in heritable disease.

Authors:  B C Sykes
Journal:  Lancet       Date:  1983-10-01       Impact factor: 79.321

3.  Molecular basis of length polymorphism in the human zeta-globin gene complex.

Authors:  S E Goodbourn; D R Higgs; J B Clegg; D J Weatherall
Journal:  Proc Natl Acad Sci U S A       Date:  1983-08       Impact factor: 11.205

4.  Lethal osteogenesis imperfecta and a gene deletion.

Authors:  B Sykes; D Ogilvie
Journal:  Br Med J (Clin Res Ed)       Date:  1984-05-05

5.  The highly polymorphic region near the human insulin gene is composed of simple tandemly repeating sequences.

Authors:  G I Bell; M J Selby; W J Rutter
Journal:  Nature       Date:  1982-01-07       Impact factor: 49.962

6.  Lethal osteogenesis imperfecta congenita and a 300 base pair gene deletion for an alpha 1(I)-like collagen.

Authors:  F M Pope; K S Cheah; A C Nicholls; A B Price; F G Grosveld
Journal:  Br Med J (Clin Res Ed)       Date:  1984-02-11
  6 in total
  10 in total

1.  Amplification of the COL2A1 3' variable region used for segregation analysis in a family with the Stickler syndrome.

Authors:  L Priestley; D Kumar; B Sykes
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

2.  A VNTR immediately adjacent to the human pseudoautosomal telomere.

Authors:  C F Inglehearn; H J Cooke
Journal:  Nucleic Acids Res       Date:  1990-02-11       Impact factor: 16.971

3.  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

4.  Homozygous osteogenesis imperfecta unlinked to collagen I genes.

Authors:  K Aitchison; D Ogilvie; M Honeyman; E Thompson; B Sykes
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

Review 5.  DNA polymorphism and the study of disease associations.

Authors:  D N Cooper; J F Clayton
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132

6.  A highly polymorphic region 3' to the human type II collagen gene.

Authors:  N G Stoker; K S Cheah; J R Griffin; F M Pope; E Solomon
Journal:  Nucleic Acids Res       Date:  1985-07-11       Impact factor: 16.971

7.  Evidence against the structural gene encoding type II collagen (COL2A1) as the mutant locus in achondroplasia.

Authors:  D Ogilvie; P Wordsworth; E Thompson; B Sykes
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318

Review 8.  Diagnosis of genetic disease using recombinant DNA.

Authors:  D N Cooper; J Schmidtke
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

9.  Length polymorphism in the pro alpha 2(I) collagen gene: an alternative explanation in a case of Marfan syndrome.

Authors:  R Dalgleish; G Williams; J R Hawkins
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

10.  Genetic segregation analysis of familial mitral valve prolapse shows no linkage to fibrillar collagen genes.

Authors:  P Wordsworth; D Ogilvie; F Akhras; G Jackson; B Sykes
Journal:  Br Heart J       Date:  1989-03
  10 in total

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