Week 10 Flashcards
1
Q
Autosomal dominant Pattern
A
- A pattern of inheritance in which an affected individual has one copy of a
mutant gene and one normal gene on a pair of autosomal chromosomes. - Examples of autosomal dominant diseases include Huntington disease
1
Q
Autosomal Linkage
A
- An Autosomal chromosome is any chromosome except for the sex chromosomes.
(Humans have 44 homologous autosomal chromosomes, or autosomes.) - Autosomal linkage refers to inheritance of the genes on a given autosomal
chromosome. - Genes that are located on the same chromosome are
called linked genes. Alleles for these genes tend to
segregate together during meiosis, unless they are
separated by crossing-over. - Crossing-over occurs when two homologous
chromosomes exchange genetic material during meiosis - The closer together two genes are on a chromosome,
the less likely their alleles will be separated by crossingover. - Linkage explains why certain characteristics are
frequently inherited together. For example, genes for
hair color and eye color are linked, so certain hair and
eye colors tend to be inherited together, such as blonde
hair with blue eyes and brown hair with brown eyes
2
Q
Autosomal recessive pattern
A
- Autosomal recessive diseases require that the individual have two copies of
the mutant gene - The parents of an individual with an autosomal recessive condition each
carry one copy of the mutated gene, but they typically do not show signs
and symptoms of the condition. Autosomal recessive disorders are typically
not seen in every generation of an affected family. - E.g. Cystic fibrosis, sickle cell disease
3
Q
Epistasis
A
- In epistasis, the interaction between genes is antagonistic, such that
one gene masks or interferes with the expression of another. - The alleles that are being masked or silenced are said to be hypostatic
to the epistatic alleles that are doing the masking. - Often the biochemical basis of epistasis is a gene pathway in which the
expression of one gene is dependent on the function of a gene that
precedes or follows it in the pathway.