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