Concept explainers
a.
To determine:
The amount of CAG repeats in the HD+ alleles of the given two patients.
Introduction:
The neurogenerative diseases caused by genes with unstable trinucleotide repeats are divided into two categories. One is polyQ diseases, and the other is non-polyQ diseases where Q represent the amino acid glutamine.
b.
To determine:
The justification about the processes which results in mutation in HD alleles along with the type of cells in which these processes take place.
Introduction:
In polyQ disease genes, the repeated triplet is always CAG, whereas, in non-polyQ disease genes, the trinucleotide repeat may be CGG, CTG, GCC, or GAA. These two types of diseases are distinguished based on the effect of the repeated sequence on gene function.
c.
To determine:
The reason that patients with Huntington disease have no family history.
Introduction:
The Huntington disease is an inherited disorder which causes the death of brain cells. The disease initiates in the age of 30s or 40s. It can cause impaired movement, loss of thinking ability, and psychiatric symptoms.
d.
To determine:
The result if the PCR analysis performed on single skin cells instead of a single sperm.
Introduction:
The polymerase chain reaction is a method of producing multiple copies of specific DNA sequence. It involves three steps, denaturation, annealing, and elongation. The PCR exponentially amplify the desired segment in very less time.
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Genetics: From Genes to Genomes, 5th edition
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