Inheritance Type
Child has 50% chance of inheriting trait from affected Mother or Father, Male and Female both qually likely to transmit phenotype, what type of inheritance pattern is this
Autosomal Dominant
Marfan syndrome has what mechanism of inheritance
Autosomal dominant
FBN1 mutation leading to tall and slender build, long arms legs and fingers, heart murmurs and flat feet
Marfan's syndrome
Map from generation to generation used to determine inheritance pattern of condition
Pedigree/genogram
What class of Virus is HIV
retrovirus
Males Can receive condition from Heterozygous Mother, but cannot receive from Father, Females can receive Allele from mother but likely not express condition what type of inheritance is this
X-linked Recessive
Cystic fibrosis has what mechanism of inheritance
Autosomal recessive
Progressive muscular weakness, heart problems and developmental delay due to mutation in DMD gene, dystrophin protein
Duchenne muscular dystrophy
heritable changes caused by activation and deactivation of genes without change in the underlying DNA sequence of the organism
Epigenetics
Lines of Zahn on histology are indicitave of what
a thromus (blood clot)
Conditions in the mother are expressed in all of her children
Mitochondrial inheritance
Duchenne muscular dystrophy has what mechanism of inheritance
X linked recessive
HTT gene has repeat of three basic DNA units that expand and lead to misfolded protein that can buildup
Huntignton disease
Number of trinucleotide repeats from generation to generation
Anticipation
Ring like lesions on brain MRI due to oppurtunistic HIV infection known as what ____________, when CD4 is below 200
Toxoplasmosis
What causes for females with X linked recessive mutant alleles to sometiems express a lower degree of the disease
X inactivation
MELAS Mitochondrial encephalomyopathy, lactic acidosis, andstroke like episodes has what mechanism of inheritance
mitochondrial
Intellectual disability, expanded triplet repeat disorder, hyperactivity/add/autstic like behaviour, long ears, long face, large testes, eye problems, FMR1 MRNA condition
fragile X syndrome
Different types(wild or mutant) of Maternal mitochondrial DNA present in an individuals mitochondria is referred to as what
heteroplasmy
Radiation administered directly to the cancer or from within it is referred to as what
Brachytherapy
As Fathers germline cells undergo meiosis one of them incurs a mutation that is passed onto the offspring what is this an example of
Germline Mosaicism
Fragile X syndrome is most associated with which mehtod of transmission
Functional loss of maternal copy of region 15q11.2-> microcephaly, moderate-severe developmental and cognitive delays, seizure disorder, speech delay, gait ataxia, maxillary hypoplasia, failure to thrive, short stature
Angelman Syndrome
Novel therapy that can code for premature stop signal to let there be a functioning protein
Ataluren
_____________ should not be given with Vancomycin because together they increase the risk of acute kidney injury
Piperacillin/tazobactam