Localization of the fibrillin (FBN) gene to chromosome 15, band q21. 1

RE Magenis, CL Maslen, L Smith, L Allen, LY Sakai - Genomics, 1991 - Elsevier
RE Magenis, CL Maslen, L Smith, L Allen, LY Sakai
Genomics, 1991Elsevier
Fibrillin (FBN), a large extracellular matrix glycoprotein, is an important component of
structures called microfibrils. Because fibrillin microfibrils appear to be abnormal in patients
with the Marfan syndrome, fibrillin is a candidate for the gene defect in the Marfan syndrome.
Derived clones from fibrillin cDNA were used as probes in isotopic and nonisotopic in situ
hybridization studies to map the chromosomal location of the fibrillin gene. Fluorescent
signals were found on chromosome 15 band q21. 1; an excess of silver grains was noted …
Abstract
Fibrillin (FBN), a large extracellular matrix glycoprotein, is an important component of structures called microfibrils. Because fibrillin microfibrils appear to be abnormal in patients with the Marfan syndrome, fibrillin is a candidate for the gene defect in the Marfan syndrome. Derived clones from fibrillin cDNA were used as probes in isotopic and nonisotopic in situ hybridization studies to map the chromosomal location of the fibrillin gene. Fluorescent signals were found on chromosome 15 band q21.1; an excess of silver grains was noted over a similar region of chromosome 15 following in situ hybridization with a tritium-labeled probe. These results are consistent with linkage studies that localize the Marfan gene to chromosome 15.
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