Introduction to Genetic Analysis 503

Introduction to Genetic Analysis 503 - 502 Chapter 15...

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Unformatted text preview: 502 Chapter 15 Large-Scale Chromosomal Changes that were originally on different chromosomes. Ap- parent linkage of genes known normally to be on sepa- rate nonhomologous chromosomessometimes called pseudolinkage is a genetic diagnostic clue to the pres- ence of a translocation. Applications of inversions and translocations Inversions and translocations have proved to be useful genetic tools; some examples of their uses follow. GENE MAPPING Inversions and translocations are use- ful for the mapping and subsequent isolation of specific genes. The gene for human neurofibromatosis was iso- lated in this way. The critical information came from people who not only had the disease, but also carried chromosomal translocations. All the translocations had one breakpoint in common, in a band close to the centromere of chromosome 17. Hence it appeared that this band must be the locus of the neurofibromatosis gene, which had been disrupted by the translocation breakpoint. Subsequent analysis showed that the chro- mosome 17 breakpoints were not at identical positions; however, since they must have been within the gene, the range of their positions revealed the segment of the...
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