General Vocab Flashcards
Hypogonadotropic hypogonadism
a condition in which the hypothalamus or the pituitary gland do not produce the hormones that signal to the testes (in males) or the ovaries (in females) to produce sex hormones
Dystonia
a movement disorder that causes the muscles to contract involuntarily. This can cause repetitive or twisting movements.
opisthotonus
is a state of severe hyperextension and spasticity in which an individual’s head, neck and spinal column enter into a complete “bridging” or “arching” position.
Hypoketotic hypoglycemia
low blood glucose concentration in the absence of ketone bodies in the urine
Reye-like syndrome
acute noninflammatory encephalopathy with hyperammonemia, liver dysfunction, and fatty infiltration of the liver
HELLP syndrome
hemolysis, elevated liver enzymes, and low platelet count; severe complication of pregnancy
Semi-dominant inheritance
In incomplete dominance, both alleles contribute to the phenotype additively.
The heterozygous phenotype shows an intermediate between the homozygous phenotypes.
Dyspraxia
is a neurodevelopmental condition that begins in childhood that makes it difficult to perform motor skills. It also causes issues with coordination.
Hypergonadatropic hypogonadism
little or no hormone is produced by the testes or ovaries. The condition can be hypergonadotropic (primary, resulting when the gonads fail)
Locus heterogeneity
mutations in different genes can cause the same disorder/phenotype
Ex: autism, RP
Allelic heterogeneity
different mutations/alleles in the same gene can cause the same disorder
Ex: CF
Phenotypic heterogeneity (aka genetic heterogeneity)
different mutations in the same gene can cause different phenotypes
ex: FGFR2 associated conditions (Apert, Crouzon, Pfeiffer)
Pleiotropy
one gene mutation influences many unrelated phenotypic traits
ex: PKU and SCA affect multiple body systems
Variable expressivity
one condition can have many different phenotypes. Phenotypes can vary widely between relatives with the same variant
ex: NF1
Penetrance
How likely a mutation in a gene is to lead to dz. Reduced penetrance results in variant carriers who may not ever present w dz
What is the liability threshold/genetic liability? What does it apply to?
multifactorial conditions that are more common in one sex than another
to have the trait, the person has to meet genetic and environmental factors that cause them to be predisposed to it
think of the u/s findings and which sex is more likely to have the phenotype
What % of cancers are hereditary
10%
Describe the two hit hypothesis
used to describe cancer development
“two hits” or mutations (one on each gene copy) initiate cancer development or inhibit ability to destroy cancerous cells
when people have a germline mutation, all of their cells already have one hit
the second hit is a somatic mutation that occurs randomly on the other copy of the same gene that has a germline mutation
non-hereditary cancers also require two hits, but both are somatic
Define tumor suppressor genes. Give some examples
regulate cell division and tell cells when to die; acts like a brake pedal and keeps the cell from dividing too quickly
when there is a mutation, cell division can get out of control and transform into cancer; cause cancer when they are turned OFF
ex: Rb, p53, APC, BRCA1/2, NF1/2
Define oncogenes
regulate cell division; act like a gas pedal when mutated, pushing the cell to divide
can cause ca when they are turned on; a non-mutated oncogene is called a PROTO-oncogene
Define DNA repair genes. Give examples
reduced ability to repair DNA damage when somatic mutations occur (mutations from tobacco use, UVR, aging, random)
mismatch repair genes (Lynch): MSH2, MSH3, MSH6, MLH1, PMS2
Nucleotide excision repair genes (xeroderma pigmentosum, Cockayne syndrome)
Fanconi anemia genes
Rhizomelia
short proximal long bones
Mesomelia
short distal long bones
Acromelia
short hands and feet
Amelia
absent limbs
micromelia
all parts of the long bones are shortened/small
