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Literature DB >> 2034688

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

P Tsipouras¹, M Sarfarazi, A Devi, B Weiffenbach, M Boxer.

Abstract

Marfan syndrome is a systemic disorder of the connective tissue inherited as an autosomal dominant trait. The disorder imparts significant morbidity and mortality. The etiology of the disorder remains elusive. A recent study localized the gene for Marfan syndrome on chromosome 15. We present data showing that marker D15S48 is genetically linked to Marfan syndrome. Pairwise linkage analysis gave a maximum lod (logarithm of odds) score of Z = 11.78 at theta = 0.02. Furthermore our data suggest that the Marfan syndrome locus is possibly flanked on either side by D15S48 and D15S49.

Entities: Disease

Mesh：

Substances：
Genetic Markers

Year: 1991 PMID： 2034688 PMCID： PMC51685 DOI： 10.1073/pnas.88.10.4486

Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205

25 in total

1. 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

2. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome.

Authors: D W Hollister; M Godfrey; L Y Sakai; R E Pyeritz
Journal: N Engl J Med Date: 1990-07-19 Impact factor: 91.245

3. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

Authors: P W Rigby; M Dieckmann; C Rhodes; P Berg
Journal: J Mol Biol Date: 1977-06-15 Impact factor: 5.469

Review 4. 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

5. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors: J Ott
Journal: Am J Hum Genet Date: 1974-09 Impact factor: 11.025

6. Life expectancy and causes of death in the Marfan syndrome.

Authors: J L Murdoch; B A Walker; B L Halpern; J W Kuzma; V A McKusick
Journal: N Engl J Med Date: 1972-04-13 Impact factor: 91.245

7. Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome.

Authors: L Pulkkinen; K Kainulainen; T Krusius; P Mäkinen; J Schollin; K H Gustavsson; L Peltonen
Journal: J Biol Chem Date: 1990-10-15 Impact factor: 5.157

8. Marfan syndrome. Demonstration of abnormal elastin in aorta.

Authors: P A Abraham; A J Perejda; W H Carnes; J Uitto
Journal: J Clin Invest Date: 1982-12 Impact factor: 14.808

9. Cell-free synthesis of hyaluronic acid in Marfan syndrome.

Authors: A Appel; A L Horwitz; A Dorfman
Journal: J Biol Chem Date: 1979-12-10 Impact factor: 5.157

10. Studies on elastic tissue of aorta in aortic dissections and Marfan syndrome.

Authors: S Derouette; W Hornebeck; D Loisance; G Godeau; J P Cachera; L Robert
Journal: Pathol Biol (Paris) Date: 1981-11

10 in total

1. Marfan syndrome: a mystery solved.

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

2. 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

3. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

Authors: D M Milewicz; R E Pyeritz; E S Crawford; P H Byers
Journal: J Clin Invest Date: 1992-01 Impact factor: 14.808

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

1. Linkage analysis in Marfan syndrome.

2. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome.

3. Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

Review 4. The Marfan syndrome: diagnosis and management.

5. Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

6. Life expectancy and causes of death in the Marfan syndrome.

7. Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome.

8. Marfan syndrome. Demonstration of abnormal elastin in aorta.

9. Cell-free synthesis of hyaluronic acid in Marfan syndrome.

10. Studies on elastic tissue of aorta in aortic dissections and Marfan syndrome.

1. Marfan syndrome: a mystery solved.

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

3. Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts.

4. Understanding Marfan's syndrome.

5. An unusual patient with the neonatal Marfan phenotype and mitochondrial complex I deficiency.

6. Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides.

7. Marfan syndrome in a large family: response of family members to a screening programme.

8. Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.

9. Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts.

10. The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus.