Literature DB >> 2572536

Haplotype frequencies of the collagen type-I genes in the Italian population.

M Mottes1, L Cugola, P F Pignatti.   

Abstract

We have determined the frequencies of six restriction fragment length polymorphisms (RFLPs) of type-I collagen genes in a random sample of 100 subjects. Alpha 1 gene (COL1A1) DNA polymorphisms, FG2/MspI, 2FC6/RsaI, and NST70/RsaI, had polymorphism information content (PIC) values of 0.35, 0.32, and 0.26, respectively. Alpha 2 gene (COL1A2) RFLPs, NJ3/EcoRI, Hf32/RsaI, and Hf32/MspI had PIC values of 0.36, 0.35, and 0.25, respectively. The combined haplotype PIC values were 0.71 at the COL1A1 locus and 0.73 for COL1A2. Two COL1A1 and two COL1A2 RFLPs were more polymorphic than in the English population, making them better markers for the analysis of Italian families affected by osteogenesis imperfecta and some other inherited collagen diseases.

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Year:  1989        PMID： 2572536     DOI： 10.1007/BF00291383

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


  15 in total

1.  Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

Authors:  W G Cole; D Chan; G W Chambers; I D Walker; J F Bateman
Journal:  J Biol Chem       Date:  1986-04-25       Impact factor: 5.157

2.  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

3.  Linkage disequilibrium analyses and restriction mapping of four RFLPs at the pro alpha 2(I) collagen locus: lack of correlation between linkage disequilibrium and physical distance.

Authors:  A L Børresen; P Møller; K Berg
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

4.  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

5.  Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

Authors:  G Wallis; P Beighton; C Boyd; C G Mathew
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

6.  Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.

Authors:  C T Falk; R C Schwartz; F Ramirez; P Tsipouras
Journal:  Am J Hum Genet       Date:  1986-03       Impact factor: 11.025

7.  Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta.

Authors:  P Tsipouras; A L Børresen; L A Dickson; K Berg; D J Prockop; F Ramirez
Journal:  Am J Hum Genet       Date:  1984-11       Impact factor: 11.025

8.  Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.

Authors:  D Weil; M Bernard; N Combates; M K Wirtz; D W Hollister; B Steinmann; F Ramirez
Journal:  J Biol Chem       Date:  1988-06-25       Impact factor: 5.157

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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  3 in total

1.  Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome.

Authors:  J Bonaventure; C Lasselin; J Mellier; L Cohen-Solal; P Maroteaux
Journal:  J Med Genet       Date:  1992-07       Impact factor: 6.318

2.  Segregation analysis of dominant osteogenesis imperfecta in Italy.

Authors:  M Mottes; L Cugola; N Cappello; P F Pignatti
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

3.  Nested polymerase chain reaction on cellular DNA in plasma: a rapid method to investigate the collagen type I A2 MspI polymorphic restriction site in alcoholic patients.

Authors:  L Christa; J P Zarski; B Nalpas; C Augereau; C Bréchot
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132
  3 in total

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