Topic 11- Genetic Disorders Flashcards
What is the definition of Degeneration?
deterioration and loss of function in the cells of a tissue or organ
What does degeneration do?
Loss Of Muscle Mass Or Loss Of Function
What is the definition of Protein Truncation?
mutations at the protein level that lead to premature translation termination
What does Protein Truncation do?
protein mutations
The Definition Abnormal splicing
Destroy or create a new splice sites
What Abnormal splicing does
Cutting the DNA
Definition Fibrinogen
Found In Plasma And Helps Stop Bleeding
What Fibrinogen does
Helps Stop Bleeding
Definition of Fibrin
fibrous, non-globular protein involved in the clotting of blood.
What Fibrin does
involved in the clotting of blood
Definition of Pleiotropy
one gene influences multiple traits, sometimes in unexpected ways
What does Pleiotropy do
Gene’s Multiple Traits
Definition of Neurofibromin (NF1) gene
NF1 codes for neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP.
What does Neurofibromin (NF1) gene do
negatively regulates RAS/MAPK pathway activity
Definition of Haploinsufficiency
A model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype
What does Haploinsufficiency do
single copy wild-type allele at a locus in heterozygous combination with a variant allele insufficient to produce the wild-type phenotype
Definition of Endochondral ossification
one of the two essential processes during fetal development of the mammalian skeletal system
what Endochondral ossification does
bone tissue is produced
Definition of Genetic anticipation
genetic disorder is passed on to the next generation
what Genetic anticipation does
