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42 Cards in this Set
- Front
- Back
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Autosomal dominant (can be acquired) most common malignant eye tumor of children.
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- retinoblastoma
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Acronym for pheylketonuria, autosomal recessive, due to lack of enzyme necessary to convert amino acid phenylalanine to tyrosine; results in cortical damage if levels get high
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- PKU
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Containing 3 copies of one chromosome, eg Down syndrome is condition caused by full or mosaic extra copy
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- trisomy
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Extent of variation in phenotype associated with a particular genotype
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- expressirity
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Persons who do not have the disease but passes altered gene on to children
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- carrier
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Syndrome due to trisomy of 21st chromosome; mental & physical abnormalities -> cause of inherited mental retardation
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- Down's Syndrome
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Percent of individuals with genotype who express phenotype
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- Penetrance
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Laws/principles that were formulated by Gregor Mendel; principles of segregation & independent assortment
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- Mendelian
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Most common & severe X-linked recessive disorder -> causes progressive muscular degeneration
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- Duchenne Muscular Dystrophy
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Allele that is expressed as one copy; 50% risk of inheritance; only one parent has to have to cause expression in child
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- Dominent
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Alteration in genetic material of cell; if occurs in germline can be inherited by offspring; if occurs in DNA of somatic cells after birth, can still cause disease in that person, but not transmitted to next generation
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- Mutation
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Type of anemia caused by autosomal recessive error; abnormal hemoglobin S causes concave shaping of RBC & clogging of vessels leading to severe pain & ischemia
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- Sickle Cell
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Most common lethal recessive disease of white children; defective chloride transport leads to thick, tenacious mucus resulting in pulmonary & pancreatic dysfunction
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- Cystic Fibrosis
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Interchange of genetic material between nonhomologous chromosomes
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- translocation
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Syndrome characterized by at least 2 X chromosomes & a Y chromosome; degree of physical & mental impairment increases with each added X chromosom
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- Klinefelter
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Individual that is first in family to come to attention of a genetics service
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- Proband
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Type of risk; family known to be at risk for a genetic disease, but it has not been expressed yet
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- Occurrence
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Syndrome found only in females; only single X chromosome so only 45 chromomes
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- Turner's syndrome
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Autosomal dominant disease; good example of variable expressivity; harmless spots to brain tumors
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- Neurofibromatiosis
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Type of inheritance pattern; 25% of offsprings at risk; must inherit trait from both parents before expressed
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- Recessive
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When the same altered genes are expressed differently depending on whether inheritance from mother & father
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- Imprinting
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Mating of two related individuals; inbreeding; increase risk for genetic disorders
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- Consanguintiy
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Autosomal dominant degenerative neurological disease manifesting with dementia & chorea; expressed in midlife
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- Huntington's
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Occurs when two breaks take place on a chromosome; the central piece is reversed and reinserted
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- Inversion
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Also known as sex-linked; seen more in males; never transmitted from father to son, but always from father to daughter; 50% risk for carrier mother to pass to son
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- X-linked
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Type of risk when one child has already been born with a genetic disease
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- recurrence
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Classic type of A; X-linked recessive bleeding disorder
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- hemophelia
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Autosomal recessive; best known lysosomal storage disorder; 80% of Jewish; CNS problems
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- Tay Sachs
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Syndrome that is second only to down syndrome as cause of inherited mental retardation
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- Fragile X
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What is considered autosomal dominant?
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- inherit from at least one parent
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What is an autosomal recessive genetic disorder with RBC the becomes concave, clogs vessels, & causes pain?
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- Sickle Cell Anemia
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What condiction is found in women; has only a single X chromosome & 45 instead of 46 chromosomes?
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- Turner's Syndrome
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What is the the autosomal dominant neurological disorder that has progressive dementia & chorea?
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- Huntington's disease
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What is an autosomal recessive disease with excess mucus & pancreatic + respiratary problems?
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- cystic fibrosis
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What characterizes severe X linked recessive, progressive muscle degeneration?
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- Duchene Muscular Dystrophy
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Autosomal recessive, homozygous, inherited:
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- both parents
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Autosomal recessive, inability to metabolize essential amino acids:
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- PKU
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What is translation?
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- chain of amino acids formed based on RNA code
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What are autosomes?
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- name for chromosomes not sex linked
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What are gametes?
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- to pass gene on to another generation
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Autosomal recessive inheritance has -
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- consanguinity greater risk in
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What is genomics?
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- each of the major psychiatric disorders that has a significant genetic component
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