Literature DB >> 8094066

Polymorphisms and linkage disequilibrium in the COL6A1 and COL6A2 gene cluster: novel DNA polymorphisms in the region of a candidate gene for congenital heart defects in Down's syndrome.

G E Davies1, C M Howard, L M Gorman, M J Farrer, A J Holland, R Williamson, A M Kessling.   

Abstract

The COL6A1 and COL6A2 (collagen VI) gene cluster on chromosome 21 is a candidate region for defects leading to congenital heart anomalies in Down's syndrome. We report a variable number of tandem repeats (VNTR) and a restriction fragment length polymorphism (RFLP) in this gene region, detected using a COL6A1 cDNA probe. Linkage disequilibrium relationships were studied among the RFLPs of this gene cluster. The RFLP reported here shows no significant linkage disequilibrium with any others in the region. It has a polymorphism information content value of 0.27, raising the informativity of the locus.

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Year:  1993        PMID： 8094066     DOI： 10.1007/bf00217452

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


  16 in total

Review 1.  Brittle bones--fragile molecules: disorders of collagen gene structure and expression.

Authors:  P H Byers
Journal:  Trends Genet       Date:  1990-09       Impact factor: 11.639

2.  The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.

Authors:  C A Francomano; G R Cutting; M K McCormick; M L Chu; R Timpl; H K Hong; S E Antonarakis
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

3.  Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene.

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Journal:  Nature       Date:  1991-07-25       Impact factor: 49.962

4.  Cloning and chromosomal localization of human genes encoding the three chains of type VI collagen.

Authors:  D Weil; M G Mattei; E Passage; V C N'Guyen; D Pribula-Conway; K Mann; R Deutzmann; R Timpl; M L Chu
Journal:  Am J Hum Genet       Date:  1988-03       Impact factor: 11.025

5.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

6.  Genetics, chance, and morphogenesis.

Authors:  D M Kurnit; W M Layton; S Matthysse
Journal:  Am J Hum Genet       Date:  1987-12       Impact factor: 11.025

7.  Type VI collagen in healing rabbit corneal wounds.

Authors:  Y Murata; H Yoshioka; M Kitaoka; K Iyama; R Okamura; G Usuku
Journal:  Ophthalmic Res       Date:  1990       Impact factor: 2.892

Review 8.  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

9.  Cytokines and growth factors positively and negatively regulate interstitial collagen gene expression in human vascular smooth muscle cells.

Authors:  E P Amento; N Ehsani; H Palmer; P Libby
Journal:  Arterioscler Thromb       Date:  1991 Sep-Oct

10.  A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV.

Authors:  G Tromp; H Kuivaniemi; H Shikata; D J Prockop
Journal:  J Biol Chem       Date:  1989-01-25       Impact factor: 5.157
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  5 in total

1.  Unusual genotypes in the COL6A1 gene in parents of children with trisomy 21 and major congenital heart defects.

Authors:  G E Davies; C M Howard; M J Farrer; M M Coleman; L M Cullen; R Williamson; R K Wyse; A M Kessling
Journal:  Hum Genet       Date:  1994-04       Impact factor: 4.132

2.  Meiotic crossing-over in nondisjoined chromosomes of children with trisomy 21 and a congenital heart defect.

Authors:  C M Howard; G E Davies; M J Farrer; L M Cullen; M M Coleman; R Williamson; R K Wyse; R Palmer; A M Kessling
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

3.  An excess of deleterious variants in VEGF-A pathway genes in Down-syndrome-associated atrioventricular septal defects.

Authors:  Christine Ackerman; Adam E Locke; Eleanor Feingold; Benjamin Reshey; Karina Espana; Janita Thusberg; Sean Mooney; Lora J H Bean; Kenneth J Dooley; Clifford L Cua; Roger H Reeves; Stephanie L Sherman; Cheryl L Maslen
Journal:  Am J Hum Genet       Date:  2012-10-05       Impact factor: 11.025

4.  Cardiovascular physiology and pathophysiology in Down syndrome.

Authors:  B T Cilhoroz; C N Receno; K S Heffernan; L R Deruisseau
Journal:  Physiol Res       Date:  2022-01-19       Impact factor: 1.881

5.  Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects.

Authors:  James R Priest; Santhosh Girirajan; Tiffany H Vu; Aaron Olson; Evan E Eichler; Michael A Portman
Journal:  Am J Med Genet A       Date:  2012-04-23       Impact factor: 2.802
  5 in total

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