caa a22 4500 467983496 CHVBK 20180323112525.0 cr unu---uuuuu 170328e19900201xx s 000 0 eng 10.1007/BF00200565 doi (NATIONALLICENCE)springer-10.1007/BF00200565 Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2 [Elektronische Daten] [Katariina Kainulainen, Aslak Savolainen, Aarno Palotie, Ilkka Kaitila, Joel Rosenbloom, Leena Peltonen] Summary: Marfan syndrome represents a heterogeneous connective tissue disease, the symptoms arising in several tissues and organs. The defective gene(s) behind this autosomal dominant condition has not been found despite considerable research. The main targets of the research have been the genes coding for connective tissue components. Several of the candidate genes suspected to be defective in Marfan syndrome are located on the long arm of chromosome 2. These genes include a cluster of two genes coding for fibrillar collagens COL3A1 and COL5A2, and a third member of the collagen gene family: COL6A3. Furthermore, genes for elastin (ELN) and fibronectin (FN) are also located in this area of chromosome 2. We studied this chromosomal area using restriction fragment length polymorphism (RFLP) linkage analysis in five Finnish Marfan families with affected members in three generations. In two point linkage analyses, Lod scores of −3.192 (θ = 0.1) to COL3A1, −1.683 (θ = 0) to COL6A3 and −2.664 (θ = 0.01) to FN were obtained, whereas the linkage analysis between elastin and the disease was non-informative (Lod score 0.444, θ = 0). With the multipoint linkage analysis that permits simultaneous examination of several loci and more efficient use of family data, we obtained an exclusion of all these loci as the site of the mutation leading to Marfan syndrome in these families. Springer-Verlag, 1990 Kainulainen Katariina Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, SF-00300, Helsinki, Finland aut Savolainen Aslak First Department of Medicine, The Helsinki University Central Hospital, Haartmaninkatu 4, SF-00290, Helsinki, Finland aut Palotie Aarno Department of Clinical Chemistry, University of Helsinki, Haartmaninkatu 4, SF-00290, Helsinki, Finland aut Kaitila Ilkka Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, SF-00290, Helsinki, Finland aut Rosenbloom Joel Center for Oral Health Research, School of Dental Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut Peltonen Leena Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, SF-00300, Helsinki, Finland aut Human Genetics Springer-Verlag 84/3(1990-02-01), 233-236 0340-6717 84:3<233 1990 84 439 https://doi.org/10.1007/BF00200565 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/BF00200565 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kainulainen Katariina Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, SF-00300, Helsinki, Finland aut NATIONALLICENCE 700 1- Savolainen Aslak First Department of Medicine, The Helsinki University Central Hospital, Haartmaninkatu 4, SF-00290, Helsinki, Finland aut NATIONALLICENCE 700 1- Palotie Aarno Department of Clinical Chemistry, University of Helsinki, Haartmaninkatu 4, SF-00290, Helsinki, Finland aut NATIONALLICENCE 700 1- Kaitila Ilkka Department of Medical Genetics, University of Helsinki, Haartmaninkatu 3, SF-00290, Helsinki, Finland aut NATIONALLICENCE 700 1- Rosenbloom Joel Center for Oral Health Research, School of Dental Medicine, University of Pennsylvania, 19104, Philadelphia, PA, USA aut NATIONALLICENCE 700 1- Peltonen Leena Laboratory of Molecular Genetics, National Public Health Institute, Mannerheimintie 166, SF-00300, Helsinki, Finland aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 84/3(1990-02-01), 233-236 0340-6717 84:3<233 1990 84 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer