( is represented by multiple bands (stu...)Map and Link Human Genetic Disorders with SSLP Analysis

is represented by multiple bands (stutter bands), which may be produced from Taq DNA polymerase slippage during the amplification process. These bands resemble a 2-bp ladder, with the most common band often being 2 bp shorter than a major band. Artifact bands can be distinguished from real bands by identifying a heterozygous individual, with two sets of multiple bands. We observed heterozygous patterns (Figure 1, Panel A, Lanes 1, 3-7, 9, and 13-17), 2-bp differences between the upper alleles (Figure 1, Panel A, Lane 6 compared to Lane 7 and Lane 13 compared to Lane 14), and homozygous individuals with only one set of bands (Figure 1, Panel B, Lanes 3, 6, 8, 11, 12, 15, and 16). For each marker, the dominant band is designated the true allele. Because the pattern of stutter bands is usually consistent for each marker, the genotype of each individual is deduced by scoring the dominant bands only.

We also used the CastAway system to analyze linkage studies of families with cartilage hair hypoplasia (CHH), an autosomal recessive skeletal dysplasia characterized by dwarfism, decreased immunity, and fine, sparse hair.⁸ CHH was previously linked to chromosome 9p13.⁹ D9S165 was analyzed as one of a number of markers in chromosome 9p13 to further define the segment of chromosome 9p13 to which the phenotype is linked. In a genotyping experiment using the marker D9S165, three alleles, labeled A through C (Figure 1, Panel B), were identified. Additional examples of heterozygous patterns were observed in Figure 1, Panel B, Lanes 1, 4, 5, 7, 10, 17, and 20.

By analyzing this marker and others using the CastAway system, haplotypes were generated, w
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