Diseases of the Patterns of Inheritance Flashcards
Examples of Autosomal Recessive Genetic Disorders
Cystic Fibrosis
Phenylketonuria
Sickle Cell Anemia
Xeroderma Pigmentosum
Tay Sach’s Syndrome
Albinism
Autosomal Recessive Disorder:
Caused by the absence of phenylalanine hydroxylase enzyme activity
Phenylketonuria
Autosomal Recessive Disorder:
The ability to repair damage causes by UV light is deficient
Xeroderma Pigementosum
Autosomal Recessive Disorder:
Abnormal hemoglobin molecules aggregate to form rods
Sickle Cell Anemia
What are the 4 subunits of hemoglobin
2 alpha-globins
2 beta-globins
Abnormal version of beta-globin
Hemoglobin S
In Sickle Cell Anemia, Glutamic Acid is replaced by?
Valine
Autosomal Recessive Disorder:
Affects glands that produce mucus and digestive enzyme, as well as those that produce sweat
Cystic Fibrosis
In Cystic Fibrosis, production of thick mucus in the lungs is caused by what
Faulty chloride ion channels
what does CFTR mean
Cystic Fibrosis Transmembrane Conductance Regulator
Autosomal Recessive Disorder:
A genetic condition which is the loss of pigment in the hair, skin, and eyes
Albinism
Two types of Albinism
Oculocutaneous Albinism
Ocular Albinism
Most common type of Albinism
Oculocutaneous Albinism
Type of albinism that mainly affects the eyes
Ocular Albinism
Examples of Autosomal Dominant Genetic Disorders
Achondroplasia
Brachydactyly
Familial hypercholesterolemia
Marfan Syndrome
Porphyria
Progeria
Huntington’s Disease
Autosomal Dominant Disorder:
Dwarfism associated with abnormalities in growth
Achondroplasia
Achondroplasia is caused by the mutation of what
Fibroblast Growth Factor Receptor 3
Autosomal Dominant Disorder:
A genetic disorder characterized by high cholesterol levels, specifically LDL
Familial Hypercholesterolemia
Autosomal Dominant Disorder:
Excess growth factors are released and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues
Marfan Syndrome
Cause of Marfan Syndrome
Misfolding of Fibrillin-1
Autosomal Dominant Disorder:
Group of rare diseases in which chemical substances called porphyrins accumulate with high metabolism
Porphyria
Part of hemoglobin that carries oxygen
Heme
Autosomal Dominant Disorder:
Caused by mutation in which the person ages rapidly
Progeria
Cause of Progeria
Mutation of LMNA gene
Responsible for making Lamin A
LMNA gene
Structural form of Lamin
Progerin
Autosomal Dominant Disorder:
Central nervous system breaks down at the age of 30
Huntington’s Disease
Huntington’s Disease has a mutation of what gene?
Huntingtin
Building blocks of DNA that repeat more than they normally do in Huntington’s Disease
Cytosine
Adenine
Guanine
In X-Linked Recessive, Males are ________ for gene of X
Hemizygous
Examples of X-Linked Recessive Disorders
Duchene Muscular Dystrophy
Hemophilia
Fragile X Syndrome
In DMD, what protein is encoded that supports plasma membrane during contraction
Dystrophin
X-Linked Recessive Disorder:
Lack of clotting
Hemophilia
Most common form of X-Linked Hemophilia
Hemophilia A
X-Linked Recessive Disorder:
Appearance of a gap(fragile site) in the distal part of the long arm of the x chromosome
Fragile X Syndrome
This is molecularly analyzed for diagnosis of Fragile X Syndrome
CGG Trinucleotide Repeat Expansion Gene
Human gene that codes for a protein called fragile X mental retardation protein (FMRP)
Fragile X Mental Retardation 1 (FMR1)
This protein regulates the production of other proteins and plays a role in the development of synapses which are specialized connection between nerve cells
Fragile X Mental Retardation Protein
IQ range of males with Fragile X Syndrome
20-80 (Mean of 50)
Second most common genetic cause of severe learning difficulties
Fragile X Syndrome
X-Linked Dominant Disorders
X-Linked Hypophosphatemia
Alport Syndrome
X-Linked Dominant Disorder:
An X-linked dominant form of Rickets
X-Linked Hypophosphatemia
In X-Linked Hypophosphatemia, ingestion of what vitamin is relatively ineffective
Vitamin D
What protein regulates Fibroblast Growth Factor 23
PHEX
X-Linked Dominant Disorder:
Mutations in the genes involved in collagen type IV biosynthesis
Alport Syndrome
In Alport Syndrome, what gene is mutated
COL4A5 gene
