Literature DB >> 1977683

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

L Priestley1, D Kumar, B Sykes.   

Abstract

Amplification of a variable region 3' to the human type II collagen gene (COL2A1) has permitted segregation analysis in a three generation Stickler syndrome pedigree. This family had previously proved uninformative for the known restriction fragment length dimorphisms. Amplification of the variable region revealed five distinguishable alleles, of which three were segregating in this family. The lod score in favour of linkage was 2.86 at zero recombination.

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Year:  1990        PMID： 1977683     DOI： 10.1007/bf00194230

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


  9 in total

1.  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

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

Authors:  B Sykes; R Smith; S Vipond; C Paterson; K Cheah; E Solomon
Journal:  J Med Genet       Date:  1985-06       Impact factor: 6.318

3.  Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene.

Authors:  R G Knowlton; E J Weaver; A F Struyk; W H Knobloch; R A King; K Norris; A Shamban; J Uitto; S A Jimenez; D J Prockop
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

4.  The Stickler syndrome is closely linked to COL2A1, the structural gene for type II collagen.

Authors:  C A Francomano; R M Liberfarb; T Hirose; I H Maumenee; E A Streeten; D A Meyers; R E Pyeritz
Journal:  Pathol Immunopathol Res       Date:  1988

5.  The Stickler syndrome: evidence for close linkage to the structural gene for type II collagen.

Authors:  C A Francomano; R M Liberfarb; T Hirose; I H Maumenee; E A Streeten; D A Meyers; R E Pyeritz
Journal:  Genomics       Date:  1987-12       Impact factor: 5.736

6.  Stickler's syndrome.

Authors:  I K Temple
Journal:  J Med Genet       Date:  1989-02       Impact factor: 6.318

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.  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

9.  Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster.

Authors:  A P Jarman; R D Nicholls; D J Weatherall; J B Clegg; D R Higgs
Journal:  EMBO J       Date:  1986-08       Impact factor: 11.598
  9 in total
  8 in total

1.  Analysis of three variable number terminal repeat loci is sufficient to characterize the deoxyribonucleic acid fingerprints of a panel of human tumor cell lines.

Authors:  Allyson L Anding; Tanika Reiss; Glen S Germain
Journal:  In Vitro Cell Dev Biol Anim       Date:  2003 Jul-Aug       Impact factor: 2.416

2.  Population genetics and forensic efficiency data of 4 AMPFLP's.

Authors:  S Rand; C Puers; K Skowasch; P Wiegand; B Budowle; B Brinkmann
Journal:  Int J Legal Med       Date:  1992       Impact factor: 2.686

3.  Linkage study in a large pedigree with Stickler syndrome: exclusion of COL2A1 as the mutant gene.

Authors:  J Bonaventure; C Philippe; G Plessis; J Vigneron; C Lasselin; P Maroteaux; S Gilgenkrantz
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

4.  Optimized amplification of the polymorphic system COL2A1.

Authors:  K Skowasch; B Brinkmann
Journal:  Int J Legal Med       Date:  1992       Impact factor: 2.686

Review 5.  Recent advances in the gene map of inherited eye disorders: primary hereditary diseases of the retina, choroid, and vitreous.

Authors:  P J Rosenfeld; V A McKusick; J S Amberger; T P Dryja
Journal:  J Med Genet       Date:  1994-12       Impact factor: 6.318

6.  Amplified fragment length polymorphism analysis of the VNTR locus D1S80 in central Spain.

Authors:  A Alonso; P Martin; C Albarran; M Sancho
Journal:  Int J Legal Med       Date:  1993       Impact factor: 2.686

7.  Allele frequency distribution of the D1S80 (pMCT118) locus polymorphism in the Japanese population by the polymerase chain reaction.

Authors:  E Sugiyama; K Honda; Y Katsuyama; S Uchiyama; A Tsuchikane; M Ota; H Fukushima
Journal:  Int J Legal Med       Date:  1993       Impact factor: 2.686

8.  Bone marrow transplantation for mucopolysaccharidosis type I: experience of two British centres.

Authors:  A Vellodi; E P Young; A Cooper; J E Wraith; B Winchester; C Meaney; U Ramaswami; A Will
Journal:  Arch Dis Child       Date:  1997-02       Impact factor: 3.791
  8 in total

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