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Investigating CSI – Background material Table of Contents I ...

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at this locus and a different sized band was produced. What could you do as an<br />

investigator to be more certain that Jack was not the father <strong>of</strong> Payle?<br />

Disease Status<br />

In this example, we want to know if a person carries any cystic fibrosis (CF)<br />

alleles and if so, how many. Because CF is a recessive disease, anyonne with<br />

CF must be homozygous for disease alleles. From pedigree information, we can<br />

<strong>of</strong>ten determine who in this family is a carrier. However, if a couple comes to a<br />

genetic counselor, <strong>of</strong>ten an RFLP analysis is performed on the couple's DNA.<br />

RFLPs are known for CF and so it would be easy to determine if a person were<br />

homozygous wild-type (wt), heterozygous "carrier", or homozygous disease<br />

alleles and thus have CF.<br />

For couples expecting a child, it would be simple to test both parents and make a<br />

prediction about the eventual disease status <strong>of</strong> their fetus. For example, if both<br />

parents were homozygous wt, then all <strong>of</strong> their children would also be<br />

homozygous wt:<br />

47

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