Review Material Flashcards
Defined as the derangement of function seen in disease
pathophysiology
A condition with signs and/or symptoms that is linked to an increased risk of future death or disability
disease
study of heredity and its variations
genetics
molecular unit of inheritence
gene
what are the two purines/
adenine, guanine
what are the two pyrimidines
thymine and cytosine
Genetic diversity is largely determined by ____.
non-coding genome
Disease causing genetic mutations occur mainly in the ___ and sometimes in the non-coding ___. (same word)
exome
Where is DNA found?
Nucleus and mitochondria
The causes of polyploid involve (2):
polyspermia
failure to expel polar body
T/F - polyploidy can result in a live birth
FALSE
What are the common presentations of Aneuploidy?
2n-1 monosomy
2n+1 trisomy
What abnormality does this represent (and note gender)?
Down-syndrome male
What is this disease and gender?
Edwards Syndrome
Female
Aneuploidy is associated with non-disjunction in the ___ meiotic division. Causes of this action are said to be either both sporadic and related to ____.
first
older oocytes
Monosomy is usually lethal except with this disease
Turner’s Syndrome
Autosomal trisomies are usually lethal except for these diseases (3).
13 - Patau’s
18 -Edwards
21 -down sydrome
Turner’s Syndrome (45, X) phenotype (4).
List 2/4 special problems
Short, webbed neck, shield chest, female.
amenorrhea, infertile, kidney malformations, congetial heart disease, aortic arch dilation and rupture risk
Variable degrees of retardation, increased risk of medical conditions, epicanthal folds, and accelerated aging are common issues in this Trisomy.
Downs Syndrome (Trisomy 21)
What trisomy is this defined as…
Severe anomalies, markedly shortened lifespan
10% survive to age 1, 1% to age 10
Edwards Syndrome
What trisomy is defined as…
- Microcephaly, severe mental retardation
- Cleft lip & palate
- Ambiguous genetalia
- Shortened lifespan
Patau Syndrome
What does this represent?
Hint: Check out chromosome 45
45, XX - Robertsonian Translocation
Case- A healthy male (46, XY) and Robertsonian Female (45, XX) what to have a baby. What are the couples risks of having a baby?
- 1/4 chance of miscarriage
- 1/4 chance of normal baby
- 1/4 chance of baby with a balanced translocation
- 1/4 chance of baby with Down Syndrome
Chromosone deletion____has this cat-like cry; what is the name of this syndrome?
5p minus
Cri du Chat
X, Y Trisomies
- Pubertal delay, hypogonadism
- Infertility
47, XXY: Klinefelter’s syndrome
X, Y Trisomies
usually normal with no special phenotype
Triple X Syndrome
X, Y Trisomies
Usually normal, taller than expected, learning disabilityes possible but normal IQ
no syndrome name, 47 XYY
- Genotype:
- Excessive triplet repeats (CGG) lead to inactivation of FMR-1 gene
- Phenotype:
- Mental retardation
- Autism
- Prominent jaw
- Macro-orchidism
Fragile X Syndrome
A mutation prevents the production of a sufficient amount of a substance which normally stimulates the transcription of a particular gene
Haploinsufficiency
A mutation produces a product which becomes a component of a transcription stimulus and renders it non-functional
Dominant interference
•Disorders caused by _______ mutations are more common in inbred populations
recessive
Disorders caused by ______ mutations are more common in offspring of older parents
Dominant
This is an example of what type of mutation/inheritance?
Autosomal Dominant
This is an example of what type of inheritance?
Autosomal Recessive
What does this represent?
x-linked dominant
What does this represent?
x linked recessive
What is Mendel’s ratio for a dihybrid cross of an Aa/Bb?
9:3:3:1 ratio
In x-linked recessive disorders, if the mom has the disease will the males in her heritage also have the disease?
Yes, 100% yes
What does this represent?
Mitochondrial disease inheritance
What does this represent?
x-linked dominant male
*note females will present with the disease in a male to female inheritance
Common forms of mitochondrial disease
encephalopathy
myopathy
sensory loss
lactic acidosis
What does this represent?
rare genetic mutation
lacking family history
What are multifactorial inheritance examples in characteristics/phenotypes and disease?
height, skin color, intelligence, etc
congenital and adult onset
The key feature of ___ is that recurrence risk increases with the number of affected individuals in a family.
Multifactorial Inheritance of Diseases
Congenital Disorders with Multifactorial Inheritance
- Cleft palate
- Congenital heart defects
- Neural tube defects
- Pyloric stenosis
Clubfoot
What are the four layers of gene expression control?
- Environmental factors (Jacob-Monod model)
- Non-coding DNA control
- Epigenetic control
- Post-transcription control
•Two or more cell lines with different genotypes in one individual
mosaicism
Individual with two or more cell lines derived from different zygotes
chimera
•Abnormal embryo development (fusion) of fraternal (non-identical twins)
true chimera
Medically induced chimeras…
bone marrow transplant
tissue transplant
blood transfusion
pregnancy
three main sources of mutations
spontaneous DNA degratdations
replication eorros
environmental trauma
T/F; somatic cell mutations are inheritable
FALSE
Types of DNA Mutations (4)
- Silent
- Missense
- Nonsense
- Frameshift
3 Mitigating Factors for Mutations
- Genetic code redundancy
- Protein structure redundancy
- DNA repair mechanisms
•>30 genes involved in repair process
•Tumor suppressor genes
