Question

Answer all questions. Provide reasoning for the right answer. Provide reasoning for wrong options as well.

7) Marfan syndrome (MFS) is an autosomal dominant hereditary disorder of connective tissue. It is caused by mutations in the glycoprotein gene, fibrillin-1 (FBN1). This syndrome can be described as a type of _______.

a. epistasis

b. haploinsufficiency

c. aneuploidy

d. trisomy

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8) Please refer to the following DNA sequence: 5’ GAGGCCTTAAATTT 3’

Which one of the changes listed below would be a structural chromosomal mutation to the sequence above?

a. If first adenine is substituted with guanine.

b. If the second cytosine deleted.

c. If the sequence 5’ GAGGCCTTAAATTT 3’ changed to 5’ GAGGCCTTTTTAAA 3’

d. If the sequence 5’ GAGGCCTTAAATTT 3’ changed to 5’ GAGGGAGGCCTTAAATTT 3’

Answer 1

Answer 7

B haploinsufficiency

Because marfan syndrome data are consistent with a model that invokes haploinsufficiency for WT fibrillin-1

Trisomy and aneuploidy is chromosomal disorder and epistasis is interaction of genes

Answer 8

B if the second cytosine is deleted

Because it is a type of deletion chromosomal mutation

In a ) a mutation cause by a change in single nucleotide

In c ) inversion take place but at the end so it is not part of chromosomal mutation

In d ) additional pair of nucleotide is added which is not part of chromosomal mutation