Literature DB >> 2319588

An exclusion map of Marfan syndrome.

S H Blanton1, M Sarfarazi, H Eiberg, J de Groote, P A Farndon, M W Kilpatrick, A H Child, F M Pope, L Peltonen, C A Francomano.   

Abstract

The combined genetic data between the Marfan syndrome and 75 informative loci on 18 autosomes were used to construct an exclusion map for this disorder. Data are also presented for a further two unmapped markers. The most likely location of the Marfan syndrome gene is highlighted and all the unexcluded areas of the genome are displayed in a graphical form. This exclusion map shows that almost 75% of the genome has been excluded as a likely location for the Marfan syndrome gene in the majority of the families studied. Apart from chromosomes 8, 13, 21, and 22, for which no data were available, other regions not excluded yet include 5p, 6p, 9p, 10p, 12p, 15, 17p, 18, and 20p. Future linkage analysis using markers located in the highlighted regions should facilitate the identification of the site of the Marfan syndrome gene.

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Year:  1990        PMID: 2319588      PMCID: PMC1016923          DOI: 10.1136/jmg.27.2.73

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


  12 in total

1.  A suggestion of linkage between the Marfan syndrome and the rhesus blood group.

Authors:  M Mace
Journal:  Clin Genet       Date:  1979-08       Impact factor: 4.438

2.  Linkage analysis in Marfan syndrome.

Authors:  R C Schwartz; S H Blanton; C A Hyde; T R Sottile; L Hudgins; M Sarfarazi; P Tsipouras
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

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

Authors:  C Boileau; G Jondeau; C Bonaiti; M Coulon; G Delorme; O Dubourg; J P Bourdarias; C Junien
Journal:  J Med Genet       Date:  1990-02       Impact factor: 6.318

4.  A linkage study of the Marfan syndrome.

Authors:  D A Schleutermann; J L Murdoch; B A Walker; W B Bias; G A Chase; L B Freidhoff; V A McKusick
Journal:  Clin Genet       Date:  1976-07       Impact factor: 4.438

5.  Marfan syndrome: exclusion of genetic linkage to three major collagen genes.

Authors:  C A Francomano; E A Streeten; D A Meyers; R E Pyeritz
Journal:  Am J Med Genet       Date:  1988-02

6.  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

7.  Exclusion mapping.

Authors:  J H Edwards
Journal:  J Med Genet       Date:  1987-09       Impact factor: 6.318

Review 8.  The Marfan syndrome: diagnosis and management.

Authors:  R E Pyeritz; V A McKusick
Journal:  N Engl J Med       Date:  1979-04-05       Impact factor: 91.245

9.  Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.

Authors:  P Tsipouras; A L Børresen; S Bamforth; P S Harper; K Berg
Journal:  Clin Genet       Date:  1986-11       Impact factor: 4.438

10.  Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

Authors:  R Dalgleish; J R Hawkins; M Keston
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

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  12 in total

1.  Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1.

Authors:  P Tsipouras; M Sarfarazi; A Devi; B Weiffenbach; M Boxer
Journal:  Proc Natl Acad Sci U S A       Date:  1991-05-15       Impact factor: 11.205

2.  An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance.

Authors:  C Hayward; J Livingstone; S Holloway; W A Liston; D J Brock
Journal:  Am J Hum Genet       Date:  1992-04       Impact factor: 11.025

3.  Marfan syndrome: a mystery solved.

Authors:  P Tsipouras
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

4.  A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.

Authors:  M Sarfarazi; P Tsipouras; R Del Mastro; M Kilpatrick; P Farndon; M Boxer; A Bridges; C Boileau; C Junien; C Hayward
Journal:  J Med Genet       Date:  1992-02       Impact factor: 6.318

5.  Exclusion map of Salla disease: attempts to localize the disease gene using a computer program.

Authors:  L Haataja; J Schleutker; M Renlund; A Palotie; L Peltonen; P Aula
Journal:  Hum Genet       Date:  1992-01       Impact factor: 4.132

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

Authors:  K Kainulainen; B Steinmann; F Collins; H C Dietz; C A Francomano; A Child; M W Kilpatrick; D J Brock; M Keston; R E Pyeritz
Journal:  Am J Hum Genet       Date:  1991-09       Impact factor: 11.025

7.  The quantitative LOD score: test statistic and sample size for exclusion and linkage of quantitative traits in human sibships.

Authors:  G P Page; C I Amos; E Boerwinkle
Journal:  Am J Hum Genet       Date:  1998-04       Impact factor: 11.025

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

Authors:  P Tsipouras
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

9.  Autosomal dominant Marfan-like connective-tissue disorder with aortic dilation and skeletal anomalies not linked to the fibrillin genes.

Authors:  C Boileau; G Jondeau; M C Babron; M Coulon; J A Alexandre; L Sakai; J Melki; G Delorme; O Dubourg; C Bonaïti-Pellié
Journal:  Am J Hum Genet       Date:  1993-07       Impact factor: 11.025

Review 10.  Identification of defects in the fibrillin gene and protein in individuals with the Marfan syndrome and related disorders.

Authors:  D M Milewicz
Journal:  Tex Heart Inst J       Date:  1994
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