We report on the design and implementation of a prototype program, GENINFER  , to assist genetic counselors in evaluating the risk of recurrence of genetic disorders based on the analysis of family pedigrees. The present version of the program integrates a convenient graphical interface that permits counselors to draw, examine and modify family pedigrees and to enter information relevant to ri...

The harmful effects of inbreeding can be reduced if deleterious recessive alleles were removed (purged) by selection against homozygotes in earlier generations. If only a few generations are involved, purging is due almost entirely to recessive alleles that reduce fitness to near zero. In this case the amount of purging and allele frequency change can be inferred approximately from pedigree dat...

A simple and efficient algorithm is presented for finding a maximum likelihood pedigree using microsatellite (STR) genotype information on a complete sample of related individuals. The computational complexity of the algorithm is at worst (O(n(3)2(n))), where n is the number of individuals. Thus it is possible to exhaustively search the space of all pedigrees of up to thirty individuals for one...

objective(s)marfan syndrome (mfs) is a severe connective tissue disorder withan autosomal dominant inheritance pattern. early diagnosis is critical in mfs. because of the large size of fibrillin-1 gene (fbn1), the uniqueness of mutations, and the absence of genotype-to-phenotype correlations linkage analysis can be very helpful for early diagnosis of mfs. in this study, eight polymorphic marker...