1990
DOI: 10.1136/jmg.27.2.86
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Linkage analysis in Marfan syndrome.

Abstract: For this reason, we developed the strategy of using restriction fragment length polymorphisms (RFLPs) that are associated with random probes throughout the genome to map the MS locus. We present the results of our analysis of 10 three generation families here.

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Cited by 8 publications
(4 citation statements)
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“…Our findings help to explain some unusual aspects of previous findings (20)(21)(22). In the majority of cell strains and/or skin samples from affected individuals there was a paucity of staining for fibrillin, using a monoclonal antibody to the protein.…”
Section: Discussionsupporting
confidence: 75%
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“…Our findings help to explain some unusual aspects of previous findings (20)(21)(22). In the majority of cell strains and/or skin samples from affected individuals there was a paucity of staining for fibrillin, using a monoclonal antibody to the protein.…”
Section: Discussionsupporting
confidence: 75%
“…We have identified defects in fibrillin synthesis, secretion, or extracellular matrix formation in fibroblasts from 22 of the 26 probands (84%) with the Marfan syndrome that we studied (Table I group had significant aortic disease by age 30 yr. Although the molecular basis of diminished synthesis is not clear it is likely that gene deletions, nonsense mutations in the coding sequence that produce short, unstable molecules, or splicing errors will be most common, in parallel with the defects seen in thalassemias (34,35) and forms of osteogenesis imperfecta (36,37).…”
Section: Discussionmentioning
confidence: 97%
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“…The diagnosis of the condition is clinical. To date there is no diagnostic test specific for the condition because the underlying genetic basis of Marfan syndrome (MFS1) has eluded definition despite numerous histological, ultrastructural, and biochemical investigations of various candidate molecules found in the extracellular matrix of the connective tissue (3)(4)(5)(6)(7)(8)(9)(10). Positional mapping by linkage studies to markers of known chromosomal localization has been used to map and subsequently clone the genes in several genetic disorders, among them, Duchenne muscular dystrophy, cystic fibrosis, and neurofibromatosis.…”
mentioning
confidence: 99%