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Extra info for From the Sun to the Great Attractor: 1999 Guanajuato Lectures on Astrophysics
In the past, most genetic studies used restriction fragment length polymorphisms (RFLPs) as markers (see page 28). Here, restriction enzyme s are used that cut the DNA at a specific point, producing fragments whose length is dependent on the place of the cut. If a chromosome lacks the DNA sequence (marker) recognized by the enzyme, cutting does not occur and fewer, larger fragments are seen. If the appropriate sequence is present, the enzyme works and an increased number of smaller fragment s is produced.
First the target DNA is denatured (made into single strands). The probe then undergoes hydrogen bonding to its complementary sequence in the tissue. Although in situ hybridization can be done on paraffin embedded, fixed tissue, frozen tissue is better. 6 Fluorescent in situ hybridization (FISH) FISH is a special form of in situ hybridization that labels probes with different colored fluorescent labels and uses them to examine chromosomes. FISH has been used to map new genes, detect movement of known genes and to show chromosomal abnormalities.
See Chapter 9). ii. Penetrance In some dominantly inherited syndromes inheritance of the mutation does not automatically mean that the disease will develop . In retinoblastoma for example, 10% of people with an affected parent and an affected child never get the disease, yet they must carry the mutation; they have the genotype, but not the phenotype . This failure to show the disease in an individual carrying the mutation is called reduced penetrance. FAP has 100% penetrance; everybody with an APe mutation gets the disease.