Genetics

Question 1

Hereditary Disorders

Answer 1

disorders
are derived from one’s
parents, are transmitted
in the gametes through
generations and,
therefore, are familial

Question 2

Congenital Disorders

Answer 2

implies present at birth

Question 3

types of mutations

Answer 3

point
frameshift
trinucleotide repeat

Question 4

point shift mutation

Answer 4

substitution
of a single nucleotide base by a
different base

Question 5

frameshift mutation

Answer 5

insertion or deletion of one or two base pairs

Question 6

TRINUCLEOTIDE REPEAT
MUTATIONS

Answer 6

amplification of a
sequence of three nucleotides

Question 7

What structural variations may DNA undergo

Answer 7

amplification
deletion
translocation

Question 8

structural changes to DNA result in

Answer 8

aberrant gain or loss of protein function

Question 9

what is Philadelphia chromosome

Answer 9

translocation of T(9.22) between two genes in chronic myeloid leukemia

Question 10

What are the 3 types of genetic disorders

Answer 10

mendelian
mutlifactoral inheritence
cytogenic

Question 11

mendelian disorder

Answer 11

autosomal dominant, recessive, x-linked

caused by single gene defect

Question 12

cytogenic disorders can be

Answer 12

autosomes, sex chromosome aberrations