Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.
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.
Magenis
R E
RE
Department of Medical Genetics and Child Development, Oregon Health Sciences University, Portland 97201.
Maslen
C L
CL
Smith
L
L
Allen
L
L
Sakai
L Y
LY
D000595:Amino Acid Sequence; D001345:Autoradiography; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D003001:Cloning, Molecular; D015342:DNA Probes; D000071837:Fibrillins; D006801:Humans; D007621:Karyotyping; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008856:Microscopy, Fluorescence; D008969:Molecular Sequence Data
D015342:DNA Probes; D000071837:Fibrillins; D008840:Microfilament Proteins