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Map and Link Human Genetic Disorders with SSLP Analysis

specific locations throughout the genome allows inheritance patterns of specific pieces of chromosomes within a family to be determined. Haplotypes are generated by analyzing individual members of a pedigree with a number of closely linked markers. These haplotypes allow the transmission of a particular locus through a family to be analyzed; furthermore, they determine whether that locus is linked to a particular phenotype, as well as aid in identifying recombinational events, which define a critical region for a disease locus. Statistical programs, such as FASTLINK,2,3 are then employed to determine if a particular haplotype occurs only with the disease state; if a statistically significant correlation can be made between a particular marker at a given location and a particular disease, then the disease is linked to this marker at a known location within the genome.

Use the CastAway System for Mapping Studies

Employing polymorphic markers in a mapping study relies upon the method used to separate the particular bands generated by PCR. In a novel approach, we used CastAway precast polyacrylamide gels instead of pouring our own gels. The latter traditional method is not only tedious and labor intensive but is also open to problems such as bubble formation and leaking. Because CastAway gels are precast, they eliminate the time needed to prepare traditional polyacrylamide gels. These prepoured gels are available with or without preformed wells. In addition, the thinner gel format (0.25 mm), as well as the various options of polyacrylamide compositions, allowed us to effectively resolve PCR products, which often ranged in size from 120 bp to 400 bp and sometimes differed by only a few base pairs. The CastAway system permitted us to generate reproducible data; hence, variability between the gels, which may affect band resolution, was minimized. As a result, our studies, which easily c
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