Notes in 2- M & non-M Inheritance

To Subscribe, use this Key

Status	Last Update	Fields
Published	02/10/2024	Disease-Associated Mutations Alter {{c1::Protein Function}}
Published	02/10/2024	Sickle cell disorders (SCD) & Cystic fibrosis are autosomal {{c1::recessive}} traitsRequires two allele mutations to be affectedHomozygote (AA) → …
Published	02/10/2024	{{c1::Sickle cell disorders}} are autosomal recessive inherited diseases that are caused by a single point mutation on HB gene.Adenine to Th…
Published	02/10/2024	The {{c1::Punnett square}} is a square diagram that is used to predict the genotypes of a particular cross or breeding experiment
Published	02/10/2024	{{c1::Cystic fibrosis}} is an autosomal recessive inherited disease that is characterized by the buildup of thick mucus in the airways causi…
Published	02/10/2024	Achondroplasia & Huntington's disease are autosomal {{c1::dominant}} traitsRequires one allele mutation to be affectedHomozygote (aa) → normalHomo…
Published	02/10/2024	Features of Autosomal Dominant Inheritance:• Each child has 50% chance of inheriting the mutation • No “skipped generations” • Equally transmitted by …
Published	02/10/2024	Dominant inheritance disease-associated Mutations Alter Protein Function:1- {{c1::non-functional/missing}} protein2- {{c1::gain of function}} alterati…
Published	02/10/2024	{{c1::Huntington’s disease}} is an autosomal dominant inheritance that is progressively neuro-degenerative.
Published	02/10/2024	{{c1::Duchenne Muscular Dystrophy}} is an x-linked disease that causes muscle weakness due to a mutation on dystrophin gene.→ fata…
Published	02/10/2024	In an x-linked disease,If the father has it, and the mother is unaffected{{c1::None of the sons will have it, all the daughters will carry it.}}If the…
Published	02/10/2024	Features of X-linked / Sex-linked Inheritance:• Only males affected classically • Can skip generations (through unaffected women) • Unaffected women a…
Published	02/10/2024	Multiple Genes in the same Molecular Pathway can cause the same Mendelian Disease→ each gene has a strong effecte.g. Long QT, ARVC & Cardiomyopath…
Published	02/10/2024	{{c1::Mendelian}} Inheritance:• The Law of Dominance • The Law of Segregation • The Law of Independent Assortment{{c1::Non-Mendelian}} Inh…
Published	02/10/2024	Inheritance Patterns & Mechanisms of Non-Mendelian Inheritance:[1] {{c1::Incomplete Penetrance}}Environmental factors Genetic Modifiers  [2…
Published	02/10/2024	The contributions of genetic and environmental factors to human diseases:Rare disorders: Genetics simple Uni-factorial High recurrence rate in followi…
Published	02/10/2024	{{c1::Penetrance}} is the frequency with which a trait is manifested by individuals carrying the gene.
Published	02/10/2024	Different levels of genetic penetrance: e.g.Cystic fibrosis - mutations in CFTR gene→ {{c1::100%}} penetrance→ mild mutations only have congenital abs…
Published	02/10/2024	Personalised / Precision Medicine BRCA1 mutation → targeted chemotherapy with {{c1::olaparib}} (if metastatic)
Published	02/10/2024	Cystic Fibrosis (CF) is caused by a mutation in {{c1::CFTR}} (autosomal recessive) Variable Phenotype:- severity - affected organs - very …
Published	02/10/2024	CFTR mutation alone does not explain the severity of CF in organs and variation within families.  We have to take into account:[1] {{c1::Gen…
Published	02/10/2024	{{c1::Genetic modifiers}} are genes that have small quantitative effects on the level of expression of another gene.May involve polymorphism, may…
Published	02/10/2024	Why did diabetes prevalence increase rapidly in the indigenous people in the Pacific region in recent decades?
Published	02/10/2024	{{c1::Genomic imprinting}} is an epigenetic phenomenon that causes genes to be expressed in a parent-of-origin-specific manner.Some regions of th…
Published	02/10/2024	{{c1::Epigenetic modifications}} are heritable changes in gene function not explained by changes in DNA sequences→ mediated by DNA methylation → gene …
Published	02/10/2024	Genetic mechanisms of imprinting disorders:- {{c1::Deletions}} - {{c1::Point mutations}} - {{c1::Imprinting errors}}- {{c1::Uniparental disomy}} …
Published	02/10/2024	{{c1::Uniparental disomy (UPD)}} is inheritance of a chromosome pair from one parental originrefers to the situation where a child has inherited …
Published	02/10/2024	{{c1::Uniparental diploidy}} occurs when a cell line has all 46 chromosomes derived from one parent.Gynogenic  - 2 maternal genomes  - Mass…
Published	02/10/2024	Human examples of imprinting disorders:[1] {{c1::Angelman}} Syndrome (AS) → has a willie→ loss of Maternal elements[2] {{c1::Prader-Willi}} Syndr…
Published	02/10/2024	Mitochondrial Inheritance is strictly {{c1::maternal}}.Mitochondria Features:- Circular form - 16.6 kb - 37 genes - 2 rRNA - 22 tRNA - 13 coding genes
Published	02/10/2024	Why is the mitochondria a mutation hotspot?
Published	02/10/2024	{{c1::Homoplasmy}} → (normal, uniform mtDNA){{c1::Heteroplasmy}} → (two or more mtDNA with genetic alterations)
Published	02/10/2024	Mitochondria-associated disease mutations are also always inherited {{c1::maternally}}.→ Affect tissues with high metabolic demand.3 ma…
Published	02/10/2024	Three-Parent baby
Published	02/10/2024	{{c1::Anticipation}} is a phenomenon whereby a disease presents at earlier age and/or increasing severity in succeeding generations.e.g. Triplet repea…
Published	02/10/2024	{{c1::Multigenic / Complex Inheritance}} is when genes interact additively to influence a phenotypic trait.Features:• Often seen in com…
Status	Last Update	Fields