Literature DB >> 2409282

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

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.   

Abstract

The human pro alpha 2(I) collagen gene was analysed for the presence of restriction fragment length polymorphisms. DNA from randomly selected unrelated persons of three Southern African populations was cleaved with one of eight different restriction enzymes, electrophoresed, blotted, and hybridised with cDNA and genomic probes specific for the pro alpha 2(I) gene. An MspI polymorphism was detected which results from the loss of a cleavage site within the 3' half of the gene. In two of the populations studied, the polymorphism occurred at significant frequencies, and should therefore prove useful as a genetic marker for the study of inherited disorders of connective tissue involving collagen structure or biosynthesis.

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Year:  1985        PMID： 2409282      PMCID： PMC1049422          DOI： 10.1136/jmg.22.3.182

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


  27 in total

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Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

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

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Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

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Authors:  E J Miller; S Gay
Journal:  Methods Enzymol       Date:  1982       Impact factor: 1.600

7.  The synthesis of presumptive procollagen messenger ribonucleic acid in the calvaria of the developing chick embryo.

Authors:  D Breitkreutz; L Diaz de Leon; L Paglia; M Zeichner; J Wilczek; R Stern
Journal:  Biochim Biophys Acta       Date:  1978-02-16

8.  A physical map of the DNA regions flanking the rabbit beta-globin gene.

Authors:  A J Jeffreys; R A Flavell
Journal:  Cell       Date:  1977-10       Impact factor: 41.582

Review 9.  Construction of a genetic linkage map in man using restriction fragment length polymorphisms.

Authors:  D Botstein; R L White; M Skolnick; R W Davis
Journal:  Am J Hum Genet       Date:  1980-05       Impact factor: 11.025

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Authors:  J C Myers; M L Chu; S H Faro; W J Clark; D J Prockop; F Ramirez
Journal:  Proc Natl Acad Sci U S A       Date:  1981-06       Impact factor: 11.205
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  18 in total

Review 1.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M R Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

Review 2.  Comparative map for mice and humans.

Authors:  J H Nadeau; M T Davisson; D P Doolittle; P Grant; A L Hillyard; M Kosowsky; T H Roderick
Journal:  Mamm Genome       Date:  1991       Impact factor: 2.957

3.  A to G polymorphism in ELN gene.

Authors:  G Tromp; A Christiano; N Goldstein; Z Indik; C Boyd; J Rosenbloom; S Deak; D Prockop; H Kuivaniemi
Journal:  Nucleic Acids Res       Date:  1991-08-11       Impact factor: 16.971

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Authors:  R Baker; J Lynch; L Ferguson; L Priestley; B Sykes
Journal:  Nucleic Acids Res       Date:  1991-08-11       Impact factor: 16.971

5.  DNA-polymorphism of type I collagen gene detected with Bgl II in the genetically isolated Finnish population.

Authors:  H Ahti; A Palotie; L Peltonen; F Ramirez
Journal:  Hum Genet       Date:  1987-01       Impact factor: 4.132

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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

7.  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

Review 8.  Genetic markers on chromosome 7.

Authors:  L C Tsui
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

9.  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

10.  Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Authors:  G A Wallis; B Sykes; P H Byers; C G Mathew; D Viljoen; P Beighton
Journal:  J Med Genet       Date:  1993-06       Impact factor: 6.318
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