Wijker M, Ligtenberg M J, Schoute F, Defesche J C, Pals G, Bolhuis P A, Ropers H H, Hulsebos T J, Menko F H, van Oost B A
Department of Human Genetics, Free University, Amsterdam, The Netherlands.
Am J Hum Genet. 1995 May;56(5):1096-100.
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.
遗传性黄斑型大疱性营养不良（麦库西克302000）是一种X连锁疾病，最初由门德斯·达·科斯塔和范德瓦尔克于1908年在荷兰的一个家族中描述。为了确定大疱性营养不良基因的位置，对这个家族和最近描述的一个意大利家族进行了连锁分析研究。使用信息性多态性标记，该基因最初可定位在Xq27 - q28区域。在Xq27.3 - q28区域的位点未发现重组。精细定位显示，在意大利家族中，大疱性营养不良基因座位于DXS102（Xq26.3）远端，在荷兰家族中位于DXS998（Xq27.3）远端。
