genetics lecture 5 Flashcards
Autosomal recessive trait
individual must inherit two copies of the recessive allele
, one from each parent.
Individuals with only one recessive allele are carriers; they do not show symptoms but can pass on the disease allele to their offspring.
what is a autosomal recessive disorders
genetic conditions caused by mutations in genes located on autosomal chromosomes, which are chromosomes other than the sex chromosomes (X and Y).
what causes albinism
mutation in one of several genes.
what caues sickle cell anaemia
Caused by an abnormal type of haemoglobin called haemoglobin S
what are the effects of sickle cell anemia
Haemoglobin S changes the shape of red blood cells, especially when the cells are exposed to low oxygen levels. The red blood cells become shaped like crescents or sickles.
what is the dna base that changes in SCA
a valine is replaced by a glutamate in the protein (e.g. Mis-sense mutation).
what are some results due to phentoypic expression
Anaemia
Fatigue
Shortness of breath