genetic disorders 2.0 Flashcards
(49 cards)
What type of genetic inheritance is Huntington’s Disease?
Dominant
Autosomal, no group association.
What causes Huntington’s Disease?
A trinucleotide repeat expansion in the gene coding for Huntingtin (Htt).
What is the result of the trinucleotide repeat expansion in Huntington’s Disease?
It produces an altered form of the Htt protein, mutant Huntingtin (mHtt), leading to neuronal cell death.
What are the initial symptoms of Huntington’s Disease?
General lack of coordination and an unsteady gait.
What is chorea in Huntington’s Disease?
Jerky, random, uncontrollable movements that develop as the disease progresses.
Is there a cure for Huntington’s Disease?
No, it is a terminal illness with no treatment to fully arrest progression.
What is the significance of pre-symptomatic testing for Huntington’s Disease?
It counts the number of repetitions in the gene to determine risk.
What does a negative test for Huntington’s Disease indicate?
The individual does not carry the expanded gene and will not develop symptoms.
What is Sickle Cell Disorder’s mode of inheritance?
Recessive / Codominant.
What mutation causes Sickle Cell Disorder?
A point mutation in the Hgb gene, replacing glutamic acid with valine.
What happens to red blood cells in Sickle Cell Disorder?
They change shape upon deoxygenation, becoming rigid and sickle-shaped.
What is a common symptom of Sickle Cell Disorder?
Periodic painful attacks and shortened life expectancy.
How can Sickle Cell Disorder be detected?
Through a Sickle Solubility test and hemoglobin electrophoresis.
What is the relationship between Sickle Cell Disease and malaria?
Individuals with one or two alleles of the sickle cell disease are resistant to malaria.
What type of genetic inheritance is Cystic Fibrosis?
Recessive.
What gene mutation causes Cystic Fibrosis?
A mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
What are common symptoms of Cystic Fibrosis?
Difficulty breathing and insufficient enzyme production in the pancreas.
How can Cystic Fibrosis be diagnosed?
Through genetic testing before birth or a sweat test in early childhood.
What is the life expectancy for individuals with Cystic Fibrosis?
Most individuals die young, often in their 20s and 30s from lung failure.
What type of genetic inheritance is Familial Hypercholesterolemia?
Incompletely Dominant.
What causes Familial Hypercholesterolemia?
Defects in the LDL-Receptor gene resulting in malfunctioning LDL receptors.
What are the characteristics of Familial Hypercholesterolemia?
Very high LDL cholesterol and early cardiovascular disease running in families.
How can Familial Hypercholesterolemia be identified?
With genetic testing.
What type of genetic inheritance is Phenylketonuria (PKU)?
Recessive.
