Notes in e. Principles of Medical Genetics

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Published	07/28/2024	What are the three types of Mendelian inheritance?
Published	07/28/2024	What does a compound heterozygote refer to?
Published	07/28/2024	Proband = patient who {{c1::first presents with a disease}}
Published	07/28/2024	Haplotype = combination of {{c1::alleles}} transmitted together
Published	07/28/2024	Genes inherited from one chromosome = haplotype "in {{c1::cis}}" ({{c2::linked}} genes)Genes inherited from different chr…
Published	07/28/2024	In digenic inheritance, {{c1::two}} genes interact to express a {{c2::phenotype}}
Published	07/28/2024	Incomplete pentrance = {{c1::having::having/not having}} risk allele and {{c2::not showing::showing/not showing}} signs of disease
Published	07/28/2024	Why are affected individuals with autosomal dominant diseases heterozygotes?
Published	07/28/2024	The risk to each child for an autosomal dominant disease is about {{c1::50::amount}}% when one parent is affected
Published	07/28/2024	Neurofibromatosis 1 is an {{c1::autosomal dominant}}, {{c1::high}} penetrance disorder with {{c1::variable expressivity}} and {{c1::allelic heter…
Published	07/28/2024	Pleiotropy = {{c1::one}} gene(s) influence(s) a range of seemingly unrelated phenotypic traits
Published	07/28/2024	Marfan syndrome is an {{c1::autosomal dominant::inheritance pattern}} connective tissue disorder caused by {{c1::a mutation in fibrillin 1}} with…
Published	07/28/2024	{{c1::Aortic root rupture}} accounts for lowered lifespan of patients with Marfan syndrome
Published	07/28/2024	Pathogenic variant in {{c1::Fibrillin 1 (FBN1)}} is a criterion for Marfan syndrome
Published	07/28/2024	What does variable expressivity refer to?
Published	07/28/2024	Factors that prevent genotype from always → phenotype:{{c1::modifier}} genes{{c2::epigenetic}} effects{{c1::environment}}
Published	07/28/2024	In autosomal dominant inheritance, why wouldn't an affected individual have at least one affected parent?
Published	07/28/2024	Why isn't III:1 affected by erythermalgia, an autosomal dominant disease?
Published	07/28/2024	Achondroplasia is an {{c1::autosomal dominant}} that causes {{c2::dwarfism}} and is a high penetrance disorder caused by a {{c1::de novo}} mutation {{…
Published	07/28/2024	Offspring have a {{c1::75}}% of being affected by an autosomal {{c2::dominant::dominant/recessive}} disease with heterozygous&nbsp…
Published	07/28/2024	What do transversion and transition mutations refer to?
Published	07/28/2024	Allelic heterogeneity is characteristic of autosomal {{c1::dominant::dominant/recessive}} diseases
Published	07/28/2024	Autosomal recessive diseases are {{c1::horizontal::horizontal/vertical}} in inheritance
Published	07/28/2024	What does it mean for autosomal recessive diseases to be horizontal?
Published	07/28/2024	Offspring have a {{c1::25}}% risk of being affected by autosomal recessive disease when parents are {{c2::hetero::hetero/homo}}zygous
Published	07/28/2024	Why is a SNP array (CMA) better than aCGH?
Published	07/28/2024	Obligate carriers {{c1::don't show::show/don't show}} signs of disease
Published	07/28/2024	Why would double heterozygosity for genes that give rise to an autosomal recessive disease prevent pathogenesis?
Published	07/28/2024	X-linked recessive diseases only manifest in {{c1::male::male/female}} offspring
Published	07/28/2024	Why is male-to-male transmission impossible for X-linked recessive diseases?
Published	07/28/2024	Why are males hemizygous for X-linked genes?
Published	07/28/2024	Conditions under which females manifest X Linked Recessive diseases:{{c1::Skewed}} X-inactivation (Lyonization){{c2::Homozygosity}} for mutant al…
Published	07/28/2024	{{c1::Females::males/females}} are more frequently affected by X-linked {{c2::dominant::dominant/recessive}} diseases like congeni…
Published	07/28/2024	Why are females more frequently affected by X-linked dominant diseases?
Published	07/28/2024	All {{c1::daughters::sons/daughters}} of affected males are affected by X-linked dominant diseases
Published	07/28/2024
Published	07/28/2024	Additivity principle is used when two events are {{c1::mutually exclusive}}
Published	07/28/2024	Bayesian posterior probability: P(C\|E) = [P(Ci) x P({{c1::E\|C}})] / P(E) where C = genotype/conditionE = new information/eventP(Ci) is pr…
Published	07/28/2024	There is only {{c1::maternal::maternal/paternal}} inheritance for mitochondrial diseases
Published	07/28/2024	What does heteroplasmy refer to?
Published	07/28/2024	Heteroplasmy is found in {{c1::mitochondrial}} diseases
Published	07/28/2024	What type of inheritance is myotonic muscular dystrophy?
Published	07/28/2024	Myotonic muscular dystrophy causes impairment of muscle relaxation and {{c1::does::does/doesn't}} show anticipation  (signs and symptoms of …
Published	07/28/2024	Myotonic muscular dystrophy results from tandem {{c1::CTG}} repeats in the {{c2::3::3/5}}' UTR of DMPK gene and is an example of a disease with {…
Published	07/28/2024	Myotonic muscular dystrophy:tandem CTG repeats in the 3' UTR of DMPK gene expands with {{c1::maternal::paternal/maternal}} meiosis
Published	07/28/2024	Why do CTG repeats in the 3' UTR of DMPK gene lead to myotonic muscular dystrophy?
Published	07/28/2024	All triplet repeat diseases are marked by {{c1::anticipation}} and are {{c2::dynamic (can change from generation to generation)}}, {{c2::unl…
Published	07/28/2024	Anticipation - genetic disorder manifests at an {{c1::earlier age}} in subsequent generation and {{c2::increases::increases/decreases}} in severity
Published	07/28/2024	Why should diagnostic criteria be met before running a genetic test?
Published	07/28/2024	In Myotonic Muscular Dystrophy, Mutant {{c1::DMPK}} mRNA sequesters {{c2::MBNL}} protein which is required for {{c3::splicing}}
Published	07/28/2024	In triplet repeat diseases, methylation causes {{c1::loss::loss/gain}} of function and synthesis of RNA causes {{c1::gain::loss/gain}} of function
Published	07/28/2024	Heritability (h2) = {{c1::contribution of genetic factors (variance G)/sum of contibution of genetic and non-genetic factors}}
Published	07/28/2024	principles of mendelian genetics genes are transmitted as {{c1::discrete}} factors, {{c2::without}} blending, genes segregate {{c1::independently}}; {…
Published	07/28/2024	Small molecular weight RNA are 21-25 bp, non-coding RNAs that bind to {{c1::mRNA molecules}} and {{c1::downregulate}} gene expression by translational…
Published	07/28/2024	compound heterozygotes have {{c1::non-identical alleles, differing at >1 DNA location}}
Published	07/28/2024	double heterozygotes have {{c1::heterozygosity for alleles at two different loci}}
Published	07/28/2024	Niemann-Pick disease type A and B are {{c1::allelic}}, {{c1::autosomal recessive}} disorders and an example of {{c2::genotype-phenotype correlati…
Published	07/28/2024	heteroplasmy: a mutation is {{c1::not uniformly}} present in all tissues
Published	07/28/2024	Autosomal dystonia (907_909 del GAG TOR1A variant) is a disease of muscle dystonia and has markedly {{c1::low}} penetrance {{c1::(30%)}}
Published	07/28/2024	Hereditary breast cancer is an example of a {{c1::genetically heterogenous}} disease and an example of a disease where certain mutations at different …
Published	07/28/2024	Segmental neurofibromatosis is caused by a {{c1::somatic mutation}}
Published	07/28/2024	Genetic anticipation means that disease affects {{c1::progeny earlier than parents who are also carriers}}
Published	07/28/2024	Locus heterogeneity diseases like congenital hearing impairment is caused by {{c1::many different}} genes
Published	07/28/2024	Pseudodominance is when a {{c1::recessive disorder appears in successive generations}}
Published	07/28/2024	Duchenne Muscular Dystrophy is an example of {{c1::X-linked recessive}}, genetically lethal disease with onset after {{c2::3-5 years}}, {{c3::muscle w…
Published	07/28/2024	Pathogenic threshold mtDNA diseases are caused by {{c1::amount of accumulated mutant mtDNA within a single cell exceeds a threshold that induces mitoc…
Published	07/28/2024	Mitochondrial encephalomyopathy with ragged red fibers (MERRF) is a mitochondrial disorder with {{c1::maternal}} transmission, {{c2::pleiotropy}}, and…
Published	07/28/2024	Mitochondrial tRNA mutations cause defects in {{c1::many different organ systems}}
Published	07/28/2024	Tandem repeats are often {{c1::polymorphic (variable number of repeats in different individuals)}} and cause disease when the number of repeats e…
Published	07/28/2024	Clinical presentation of Neurofibromatosis 1 (NF1) includes {{c1::neurofibromas}} around nerve cells, {{c2::cafe-au-lait spots}}, {{c1::lisch nodules …
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