Literature DB >> 2989526

Exclusion of the alpha 1(II) cartilage collagen gene as the mutant locus in type IA osteogenesis imperfecta.

B Sykes, R Smith, S Vipond, C Paterson, K Cheah, E Solomon.   

Abstract

Using two restriction site polymorphisms within the structural gene coding for human type II collagen we have examined the segregation of this gene in three pedigrees with dominantly inherited osteogenesis imperfecta (Sillence type IA). We have demonstrated that the gene does not segregate with clinical expression of the disease and cannot, therefore, contain the mutation responsible for osteogenesis imperfecta in these families.

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Year:  1985        PMID： 2989526      PMCID： PMC1049423          DOI： 10.1136/jmg.22.3.187

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


  6 in total

1.  Isolation and characterization of a human collagen alpha 1(I)-like gene from a cosmid library.

Authors:  E H Weiss; K S Cheah; F G Grosveld; H H Dahl; E Solomon; R A Flavell
Journal:  Nucleic Acids Res       Date:  1982-03-25       Impact factor: 16.971

2.  Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.

Authors:  P Tsipouras; J C Myers; F Ramirez; D J Prockop
Journal:  J Clin Invest       Date:  1983-10       Impact factor: 14.808

3.  Lethal osteogenesis imperfecta and a gene deletion.

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

4.  Genetic heterogeneity in osteogenesis imperfecta.

Authors:  D O Sillence; A Senn; D M Danks
Journal:  J Med Genet       Date:  1979-04       Impact factor: 6.318

5.  Heterogeneity of osteogenesis imperfecta type I.

Authors:  C R Paterson; S McAllion; R Miller
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

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
  14 in total

1.  Linkage disequilibrium between two restriction sites in the COL2A1 gene.

Authors:  R C Schwartz; M Sarfarazi; P Tsipouras
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

2.  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

3.  Structural and segregation analysis of the type II collagen gene (COL2A1) in some heritable chondrodysplasias.

Authors:  P Wordsworth; D Ogilvie; L Priestley; R Smith; R Wynne-Davies; B Sykes
Journal:  J Med Genet       Date:  1988-08       Impact factor: 6.318

Review 4.  Prenatal diagnosis and prevention of inherited abnormalities of collagen.

Authors:  F M Pope; S C Daw; P Narcisi; A R Richards; A C Nicholls
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

5.  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

6.  Molecular abnormalities of collagen in human disease.

Authors:  F M Pope; A C Nicholls
Journal:  Arch Dis Child       Date:  1987-05       Impact factor: 3.791

7.  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

8.  Collagen genes and proteins in osteogenesis imperfecta.

Authors:  F M Pope; A C Nicholls; J McPheat; P Talmud; R Owen
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

9.  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

10.  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
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