The Gene for Hereditary Bullous Dystrophy, X-Linked Macular Type, Maps to the Xq27.3-qter Region |
| |
| Authors: | Mario Wijker Marjolijn J L Ligtenberg Frans Schoute Joep C Defesche Gerard Pals Pieter A Bolhuis Hans H Ropers Theo J M Hulsebos Fred H Menko Bernard A van Oost M Serena Lungarotti and Fr Arwert |
| |
| Institution: | Mario Wijker, Marjolijn J. L. Ligtenberg, Frans Schoute, Joep C. Defesche, Gerard Pals, Pieter A Bolhuis, Hans H. Ropers, Theo J. M. Hulsebos, Fred H. Menko, Bernard A. van Oost, M. Serena Lungarotti, and Fré Arwert |
| |
| Abstract: | Bullous dystrophy, hereditary macular type (McKusick 302000), is an X-linked disorder and was originally described in a single kindred in the Netherlands by Mendes da Costa and Van der Valk in 1908. To determine the location of the bullous dystrophy gene, segregation studies were performed in this family and in a recently described Italian family. Using informative polymorphic markers, the gene could initially be localized on the Xq27-q28 region. No recombinants were noted with loci in Xq27.3-q28. Fine mapping places the bullous dystrophy locus distal to DXS102 (Xq26.3) in the Italian family and distal to DXS998 (Xq27.3) in the Dutch family. |
| |
| Keywords: | |
|
|
