You analyze your data from the PCR reaction from question 8, which amplifies the
ID: 94171 • Letter: Y
Question
You analyze your data from the PCR reaction from question 8, which amplifies the region were the insertion lies. You notice that the patient’s sister has a single band on the gel at 45 base pairs. You notice the mother has a band at 200 base pairs and a band at 45 base pairs. The patient has a single band on the gel at 200 base pairs, and the father has a single band at 45 base pairs. This is for Fragile X syndrome.
a. What is the genotype of the father and what is the phenotype of the sister?
b. Based on the experiment, what is the size of the insertion region in the wild-type allele, and what is the size of the insertion region in the mutant allele?
c. What is the actual size of the insertion (Hint: think about the difference in the sizes of the insertion region)
Explanation / Answer
Fragile X syndrome is inherited as X linked dominant form. The patient has single band on the gel at 200 base pairs. Mother has two bands at 45 and 200 base pairs. Father has single band at 45 base pairs and sister has single band at 45 base pairs. Therefore, father and sister are normal. The patient has acquired this condition from his mother. The genotype of father is xy. Sister is normal not suffering from the disease.
The size of insertion region in wild type is 45 bp and in mutant allele is 200 bp.
The actual size of insertion is 155 bp.
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