Flashcards in Pathpharm 2 week 2 Deck (79)
One gene may “mask” another gene when the 2 are found together on a heterozygote. This refers to:
The principle of dominance.
The______________ gene’s characteristics are observable
The concealed gene is called_________
Genes for a ____________ disease occur in heterozygotes who carry 1 copy of the gene, but do not express the disease
What are some Injurois Genetic Factors that can lead to disease?
Nuclear alterations, Alterations in the plasma membrane structure, shape, receptors, or transport mechanisms
Sickle cell anemia and muscular dystrophy are examples of diseases caused by:
injurious genetic factors
_________________ result from a deficiency, excess, or structural abnormality in a chromosome.
Aneuploidy is a common chromosomal disorder resulting from:
an extra chromosome or a missing chromosome
Structural abnormalities involve:
loss (deletion) or excess (duplication) of part of a chromosome
What are two examples of chromosomal disorders?
Down’s syndrome, Cri du Chat
Trisomy 21 will cause which disease?
______________ occurs when some cells have 3 copies of chromosome 21, but others do not.
Mosaic Down's syndrome
____________ occurs when nearly all or part of a chromosome 21 becomes attached to another chromosome in the cell
Translocation Down's Syndrome
T or F: Translocation Down's syndrome is inheritable.
___________ results when a piece of chromosome 5 is missing.
Infants with Cri-du-chat often have:
a high-pitched cry that sounds like a cat
T or F: No matter what the size of the deletion on chromosome 5 the effects on the person will be the same.
FALSE. Studies suggest the larger the deletion the more severe retardation will occur.
____________________________ disorders occur when a mutation is present in one copy of a gene carried on an autosome.
Autosomal dominant disorders
Children of a person with an autosomal dominant disorder have a __________ chance of inheriting the mutation
T or F: In respect to autosomal dominant disorders- Males and females are equally likely to inherit the mutation and to be affected
In this type of disorder Family history typically reveals the disorder in sequential generations
autosomal dominant disorders
What are two examples of Autosomal Dominant Disorders?
Huntington’s disease, Neurofibromatosis
____________ is a progressive brain disorder that causes uncontrolled movements, mental and emotional problems, and loss of thinking abilit
________________ occur when two mutations — one in each gene, for a gene on an autosome — are necessary to cause disease.
autosomal recessive disorders
______________(such as parents of an affected individual) carry one copy of the mutated gene, are asymptomatic, and are considered carriers.
If two carriers have children, each child has what odds of inheriting normal or affected genes?
25% chance of inheriting both mutations and having the disease, a 50% chance of one mutation and being an unaffected carrier, and a 25% chance of inheriting both normal alleles.
Sickle Cell anemia, Cystic Fibrosis are both examples of:
Autosomal Recessive Disorders
Cystic firbrosis results from:
abnormal sodium transport leading to airway and pancreatic duct obstruction
T or F: In autosomal recessive defects, only one parent needs to donate a defective gene.
FALSE. BOTH parents must donate the defective gene