Chapter 6 Flashcards
mutation
permanent changes in DNA
germ line
all cells mutated (hereditary)
somatic
some cells mutated (acquired)
congenital
present at birth
all hereditary disorders are congenital (T/F)
False (Many but not all hereditary disorders are congenital)
Are all congenital disorders hereditary?
No.
Achondroplasia, osteogenesis imperfecta are examples of?
hereditary congenital disorders
Give two examples of hereditary disorders not present at birth?
Muscular dystrophy, asthma
Name two examples of congenital disorders that were not inherited
Congenital syphilis, amniotic band constriction
a nucleotide base is replaced by another, codes for alternative AA
Point mutations (missense)
insertion/deletion of 1 or 2 nucleotides, alters “reading frame”
Frameshift
amplification of a sequence of 3 nucleotides
Trinucleotide repeat
what are the four categories of disorders
Mendelian disorders, multigenic/polygenic,
chromosomal abnormalities, and atypical inheritance
Mendelian disorders (single gene mutations) are the most rare. (t/f)
True
You may inherit a single gene mutation disorder in which way(s)
Autosomal dominant
Autosomal recessive
X-linked recessive
single mutation may have avariety of phenotypic effects
Pleiotropy
multiple mutations may be expressed as the same trait
Genetic heterogeneity
Autosomal dominant disorders has ___% of being passed down to an affected parents offspring
50
Autosomal dominant disorders have a _________ expression
heterozygous
Autosomal dominant disorders are _______ in both male/females and have a _______ onset
equal; delayed age
Factors associated with autosomal dom. disorders
Reduced penetrance and Reduced penetrance
Autosomal recessive disorders most commonly disrupt ______
enzymes
Autosomal recessive disorders has a ___ % of being passed down
25
autosomal recessive disorders have a ______ expression and are the _________ of the mendelian disorders
homozygous; largest
