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Test: MCAT Biology
The concept of genomic imprinting is important in human genetics. In genomic imprinting, a certain region of DNA is only expressed by one of the two chromosomes that make up a typical homologous pair. In healthy individuals, genomic imprinting results in the silencing of genes in a certain section of the maternal chromosome 15. The DNA in this part of the chromosome is "turned off" by the addition of methyl groups to the DNA molecule. Healthy people will thus only have expression of this section of chromosome 15 from paternally-derived DNA.
The two classic human diseases that illustrate defects in genomic imprinting are Prader-Willi and Angelman Syndromes. In Prader-Willi Syndrome, the section of paternal chromosome 15 that is usually expressed is disrupted, such as by a chromosomal deletion. In Angelman Syndrome, maternal genes in this section are deleted, while paternal genes are silenced. Prader-Willi Syndrome is thus closely linked to paternal inheritance, while Angelman Syndrome is linked to maternal inheritance.
Figure 1 shows the chromosome 15 homologous pair for a child with Prader-Willi Syndrome. The parental chromosomes are also shown. The genes on the mother’s chromosomes are silenced normally, as represented by the black boxes. At once, there is also a chromosomal deletion on one of the paternal chromosomes. The result is that the child does not have any genes expressed that are normally found on that region of this chromosome.
| 28. | The parents of the child in Figure 1 decide to have a second child. This child is diagnosed at birth with both cystic fibrosis and Prader-Willi. Cystic fibrosis is an autosomal recessive disorder inherited on chromosome 7. The mother and father are both healthy. What was the probability of the child being born with both Prader-Willi and cystic fibrosis? |
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