Notes in 06. Single Gene Disorders

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Status	Last Update	Fields
Published	11/19/2024	DISEASE CAUSED BY TRINUCLEOTIDE REPEAT MUTATIONS{{c1::Fragile X Syndrome }}Loss of {{c2::FMR1 gene }} functionCharacterized by {{c1::severe intellec…
Published	11/19/2024	Fragile X SyndromeThe condition known as {{c1::Fragile X-Associated Tremor/Ataxia Syndrome}} is linked to carriers of pre-mutationsFragile X-associate…
Published	11/19/2024	Mitochondrial MutationMitochondrial DNA has a unique feature of {{c1::maternal inheritance}}Diseases associated with mitochondrial inheritance are {{c…
Published	11/19/2024	Genetic ImprintingWhat does genetic imprinting involve?For imprinted genes, how many functional copies exist in an individual?What can result from the…
Published	11/19/2024	Prader-Willi syndrome is caused by the deletion of band {{c1::q12}} on the long arm of the {{c2::paternal chromosome 15}}. Genes in this region of {{c…
Published	11/19/2024	Angelman syndrome is due to the deletion of a region from the {{c1::maternal}} chromosome, and genes on the corresponding region of {{c1::paternal}} {…
Published	11/19/2024	Phenylketonuria is caused by a mutation in {{c1::phenylalanine hydroxylase}}. The molecular lesion is a {{c2::splice-site}} mutation, resulting in a {…
Published	11/19/2024	Tay-Sachs disease is associated with a mutation in {{c1::Hexosaminidase A}}. The mutation can be a {{c2::splice-site}} mutation or a {{c2::frameshift …
Published	11/19/2024	Familial hypercholesterolemia is caused by mutations in the {{c1::low-density lipoprotein receptor}}. The molecular lesions include {{c2::deletions}} …
Published	11/19/2024	α-Thalassemia and β-Thalassemia are caused by deletions in {{c1::hemoglobin}}. The molecular lesion involves {{c2::reduced amount}} and defective {{c3…
Published	11/19/2024	Mutations in the {{c1::cystic fibrosis transmembrane conductance regulator}} can lead to {{c2::point mutations}} that cause abnormal protein structure…
Published	11/19/2024	{{c1::Marfan syndrome}} is caused by {{c2::missense mutations}} in the {{c3::fibrillin}} gene.
Published	11/19/2024	{{c1::Duchenne/Becker muscular dystrophy}} is caused by deletions with reduced synthesis of {{c2::dystrophin}}.
Published	11/19/2024	Hereditary retinoblastoma results from {{c1::deletions}} in the {{c2::Rb protein}}.
Status	Last Update	Fields