TY - JOUR
T1 - The Marfan syndrome locus
T2 - Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3
AU - Dietz, Harry C.
AU - Pyeritz, Reed E.
AU - Hall, Bryan D.
AU - Cadle, Ronald G.
AU - Hamosh, Ada
AU - Schwartz, John
AU - Meyers, Deborah A.
AU - Francomano, Clair A.
N1 - Funding Information:
The authors thank Dr. H. H. Kazazian for expert advice provided throughout this study. We are also grateful to Hee Kyung Hong. Eric Puffenberger, Eugene Taylor, Cathleen Goss, and Ray Kendzior for expert technical assistance. This work was supported in part by NIH Grants GM4101502 (C.A.F.), HL3.5877 and RR00722 (Outpatient General Clinical Research Grant), by the Harriet I,ane Fellowship of the Llepartment atrics, The .Johns Hopkins University School 1H.C.D.). by the Division of Pediatric Cardiology, kins University School of Medicine (H.C.D.), tional Research Grant. The Johns Hopkins Medicine (R.E.P.).
PY - 1991/2
Y1 - 1991/2
N2 - The Marfan syndrome is a common autosomal dominant disorder of connective tissue. Despite many years of intensive investigation, the primary genetic defect has not yet been identified. Reverse genetic methods, targeted at mapping this disease gene, have resulted in an initial report of linkage of the genetic locus for the Marfan phenotype in Finnish families to two polymorphic markers on chromosome 15. We have investigated four large multiplex American families with classic Marfan syndrome using standard genetic linkage methods. Our data confirm the assignment of the Marfan syndrome gene to chromosome 15, but establish a more centromeric location (defined by markers D15S25 and D15S1) as the most probable site for the genetic defect (lod score = 12.1, θ = 0.00). These data should facilitate identification and characterization of the Marfan syndrome gene and, in selected families, have immediate application to diagnosis of equivocal cases or prenatal counseling.
AB - The Marfan syndrome is a common autosomal dominant disorder of connective tissue. Despite many years of intensive investigation, the primary genetic defect has not yet been identified. Reverse genetic methods, targeted at mapping this disease gene, have resulted in an initial report of linkage of the genetic locus for the Marfan phenotype in Finnish families to two polymorphic markers on chromosome 15. We have investigated four large multiplex American families with classic Marfan syndrome using standard genetic linkage methods. Our data confirm the assignment of the Marfan syndrome gene to chromosome 15, but establish a more centromeric location (defined by markers D15S25 and D15S1) as the most probable site for the genetic defect (lod score = 12.1, θ = 0.00). These data should facilitate identification and characterization of the Marfan syndrome gene and, in selected families, have immediate application to diagnosis of equivocal cases or prenatal counseling.
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U2 - 10.1016/0888-7543(91)90264-F
DO - 10.1016/0888-7543(91)90264-F
M3 - Article
C2 - 2004786
AN - SCOPUS:0026020269
SN - 0888-7543
VL - 9
SP - 355
EP - 361
JO - Genomics
JF - Genomics
IS - 2
ER -