MOD 4 Genetic Disorders Flashcards
genes and human Dz
3 categories of human genetic DOs?
how common are they? penetrance?
example?
DO is disorders
mutations
what is a mutation? in what 2 types of cells? mutation in different types leads to?
point mutation? missense? nonsense?
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Mutations with noncoding sequences? where then? effects how? factors? (3)
deletions and insertions: reading frame intact when? type of protein? leads to frameshift?
amplification of a sequence of 3 nucleotide called?
what nucleotides? anticipation is? ex?
mutation type?
Cystic fibrosis
ABO
Tay-sachs
mendelian disorders
every individual carrier for how many deleterious genes? most are?
codominance?
pleiotropism?
genetic heterogeneity
Autosomal dominant (AD) DOs
manifested in what state? (homo/hetero)
new mutations occur in who?
variations in penetrance and expressivity
what type of products are produced?
two main patterns of DZ with AD? ex?
age of onset?
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Autosomal recessive DOs what 2 must you have down pat? what system are they in?
AR DOs
3 features: trait affect parent? chance if both parents carriers? if mutation low frequency in population strong likelihood of?
AR vs AD
(5)
primary defect in chloride ion transport called?
results in?
CF
primary defect results from? enoded by? on what chromosome?
secretions are what? this causes?
symptoms?
more CF
manifestations appear when?
incidence? what interesting about what population? autosomal recessive carriers shows?
one gene, one disorder still hold true?
CF clin features
chronic sinuplumonary disease manifested by? (1)
gastrointestinal? intestinal? (1) pancreatic? (1)
male urogenital abnormality?
strong musty or mousy odor in urine/sweat?
common in what group?
what enzyme affected? what step doesnt happen?
symptoms? birth? 6 month?
TX?
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X-linked recessive DOs
2 you must know?
X-linked DOs
mainly dom or recess? located where?
males and Y-linked inheritance?
G6PD?
Mitochondrial inheritance
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Mendelian DOs
3 you should know
Mendelian DOs
alterations in how many genes? goes to what?
4 main categories?
enzyme defects and their consequences
mutations lead to what effects on enzymes?
3 major consequences? and example for each?
Defects in receptors and transport systems
what 2 diseases? what receptor or transport affected in each?
alterations in structure, functions, or quantity of non enzyme proteins
widespread what type of effect?
2 bigger example?
adverse reactions to drugs
see what after exposure to drug?
