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Literature DB >> 3479900

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

D J Ogilvie¹, B P Wordsworth, L M Priestley, R Dalgleish, J Schmidtke, B Zoll, B C Sykes.

Abstract

Linkage markers at or close to the genes encoding the three major fibrillar collagens were used to analyze the segregation of these loci in six pedigrees with dominantly inherited Marfan syndrome. Four pedigrees were discordant at one of the Type I collagen loci (COL1A2), and, of these, two were discordant at the other Type I locus (COL1A1). The Marfan syndrome also segregated independently of the structural loci for Type II and Type III collagen in these two families. This is evidence against the Marfan syndrome being, in general, due to mutations in the major fibrillar collagen genes.

Entities: Disease Gene

Mesh：

Substances：
Genetic Markers
Collagen

Year: 1987 PMID： 3479900 PMCID： PMC1684352

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

19 in total

1. Hypervariable 'minisatellite' regions in human DNA.

Authors: A J Jeffreys; V Wilson; S L Thein
Journal: Nature Date: 1985 Mar 7-13 Impact factor: 49.962

Review 2. Structurally distinct collagen types.

Authors: P Bornstein; H Sage
Journal: Annu Rev Biochem Date: 1980 Impact factor: 23.643

3. An RFLP close to the human collagen I gene COL1A1.

Authors: D J Ogilvie; K Aitchison; B C Sykes
Journal: Nucleic Acids Res Date: 1987-06-11 Impact factor: 16.971

4. Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

Authors: A F Grobler-Rabie; D K Brebner; S Vandenplas; G Wallis; R Dalgleish; R E Kaufman; A J Bester; C G Mathew; C D Boyd
Journal: J Med Genet Date: 1985-06 Impact factor: 6.318

Review 5. Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.

Authors: M H Skolnick; H F Willard; L A Menlove
Journal: Cytogenet Cell Genet Date: 1984

6. 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

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

Authors: B C Sykes; D J Ogilvie; B P Wordsworth
Journal: Hum Genet Date: 1985 Impact factor: 4.132

8. The Marfan syndrome: a deficiency in chemically stable collagen cross-links.

Authors: R J Boucek; N L Noble; Z Gunja-Smith; W T Butler
Journal: N Engl J Med Date: 1981-10-22 Impact factor: 91.245

9. Marfan syndrome: abnormal alpha 2 chain in type I collagen.

Authors: P H Byers; R C Siegel; K E Peterson; D W Rowe; K A Holbrook; L T Smith; Y H Chang; J C Fu
Journal: Proc Natl Acad Sci U S A Date: 1981-12 Impact factor: 11.205

10. Probable autosomal recessive Marfan syndrome.

Authors: K Fried; D Krakowsky
Journal: J Med Genet Date: 1977-10 Impact factor: 6.318

17 in total

1. 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

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

1. Hypervariable 'minisatellite' regions in human DNA.

Review 2. Structurally distinct collagen types.

3. An RFLP close to the human collagen I gene COL1A1.

4. Polymorphism of DNA sequence in the human pro alpha 2(I) collagen gene.

Review 5. Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques.

6. 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.

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

8. The Marfan syndrome: a deficiency in chemically stable collagen cross-links.

9. Marfan syndrome: abnormal alpha 2 chain in type I collagen.

10. Probable autosomal recessive Marfan syndrome.

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

2. Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.

3. Linkage data for Marfan syndrome and markers on chromosomes 1 and 11.

4. Linkage analysis in Marfan syndrome.

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

6. Marfan syndrome: light at the end of the tunnel?

7. An exclusion map of Marfan syndrome.

8. Marfan syndrome: absence of type I or III collagen structural defects in 25 patients.

9. Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.

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