Mendelian Genetics
Terms
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- What are the chances an unaffected person can pass on an AD trait to child?
- 0%
- How can you explain an AD disorder in a person with unaffected parents?
- new mutation
- Describe two AD disorders that can be caused by new mutations
- Achondroplasia and Thanatophoric Dysplasia
- Describe the penetrance of Achondroplasia
- completely penetrant
- Explain different heights that result from achondroplasia
- variable expression
- What gene is mutated for people with achondroplasia
- FGFR3 fibroblast growth factor receptor 3
- Describe thanotophoric dysplasia
- lethal skeletal disease, death from respiratory insufficiency
- How does a lethal gene stay in the gene pool?
- constant rate of mutation 1 in 100,000 for thanatrophoric dysplasia
- penetrance define
- on or off
- expressivity
- veriable presentation, like a dimmer switch on a light
- holoprosencephaly is an example of what type of mutation
- SHH mutation with variable expressivity
- HPE is what type of mutation? AD or AR or mixed?
- AD
- Thanotophoric Dyspliasia is AD AR or mixed
- AD
- Achondroplasia is AD AR or other?
- AD
- An example of sex limited expression
- Hypospadius
- Time limited expression examples
- HD and breast cancer
- ex of germline mosaicism
- campomelic dysplasia, aka brittle bone disease
- what happens when s0x9 mutated
- campomelic dysplasia
- What is pseudo dominant inheritance?
- It looks like dominant inheritance but is known to be AR. ex sickle cell and DFMB1
- some contributing factors that cause Pseudodominant inheritance?
- Consanguinity --> high rate of carriers
- Can a person with a pseudo dominant mutation have children?
- Yes. It is compatible with repro
- What type of inheritance is Lowe Syndrome? AKA?
- X linked oculo cerebro renal
- Why might females show penetrance in X linked mutations?
- Unfavorable Lyonization, two mutant Xs, 46 XY female, 45 X turner syndrome
- what is an example of an xlinked letal disease
- incontinentia pigmenti
- In an x linked lethal disease, what is the ratio of male to female offspring?
- 2 females : 1 male All affected males die female moms have a smattering of miscarriages
- In an x-linked lethal disease what is the chance that the mom is the carrier?
- 2/3rd. 1/3 chance it is a new mutation
- Explain psuedoautosomal part of XY chromosomes and give example of disorder
- Leri Weill The part of the Y and X chromosomes that display autosomal inheritance patterns, ex: SHOX gene
- Define Digenic Inheritance
- when there are mutant genes that normally cause a recessive trait but now one mutant copy of both genes together is enough to cause the trait
- Describe the digenic pedigree characteristics
- Vertical Transmission (gender doesn't necessarily matter) and recessive in that it has a 1 in 4 recurrance
- under mendelian inheritance, mom and dad alleles are equally important and functionally equivalent, true or false?
- true, that is the assumption we use in mendelian inheritance