A USER-FRIENDLY HYPERCARD INTERFACE FOR HUMAN LINKAGE ANALYSIS

The availability of a large number of highly informative genetic marke rs has made human linkage analysis faster and easier to perform. Howev er, current linkage analysis software does not provide an organization al database into which a large body of linkage data can be easily stor ed and manipulated. This manual entry and editing of linkage data is o ften time consuming and prone to typing errors. In addition, the large number of alleles in many of these markers must be reduced in order t o perform linkage analysis with multiple loci across large genetic dis tances. This reduction in allele number is often difficult and confusi ng, especially in large pedigrees. We have taken advantage of the Maci ntosh-based Hypercard program to develop an interface with which linka ge data can be easily stored, retrieved and edited. For each family, t he components of the pedigree, including ID numbers, sex and affection status, only need to be entered once. The program (Linkage Interface) retrieves this information each time the data from a new polymorphic marker is entered. Linkage Interface has flexible editing capabilities that allow the user to change any portion of the pedigree, including the addition or deletion of family members, without affecting previous ly entered genotype data. Linkage Interface can also analyze both the pedigree and marker data and will detect any inconsistencies in inheri tance patterns. In addition, the program can reduce the number of alle les for a polymorphic marker. Linkage Interface will then compare the 'reduced' data to the original marker data and assists in maintaining all informative meioses by pointing out which meioses have become non- informative. Once polymorphic marker data are entered, the pedigree da ta, including the marker genotypes, are easily exported to a text file . This text file can be transferred to an IBM-compatible computer for direct use with DOS-based linkage programs.