Flashcards in VII - Genetic and Pediatric Diseases Deck (182)
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Question
Answer
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These disorders are derived from one's parents, transmitted through gametes through the generations, and are therefore familial.
Hereditary disorders(TOPNOTCH)
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This term literally means "present at birth".
Congenital(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
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This term refers to permanent changes in the DNA.
Mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
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This type of mutation results from the substitution of a single nucleotide base by a different base, resulting in the replacement of one amino acid by another.
Missense mutation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
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This type of mutation results in the replacement of one amino acid by a stop codon, resulting in chain termination.
Nonsense mutation(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
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Missense, nonsense and silent mutations are examples of ________ mutations, wherein only one base pair is replaced.
Point mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
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This type of mutation occur when the insertion or deletion of one or two bse pairs alters the reading frame of the DNA strand.
Frameshift mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
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These mutations are characterized by amplification of a sequence of three nucleotides.
Trinucleotide repeat mutations(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
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Disease characterized by CGG trinucleotide repeats.
Fragile X Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.227
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This is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems.
Huntington's disease(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229
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Genetic mutation in Huntington's disease?
CAG trinucleotide repeats(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229
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This disorder is a chronic, slowly progressing inherited genetic disorder characterized by muscle wasting, cataracts, heart conduction defects, endocrine changes and myotonia.
Myotonic Dystrophy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229
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Genetic mutation found in myotonic dystrophy?
CTG Trinucleotide repeats(TOPNOTCH)
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A point mutation wherein a single base pair is replaced but codes for the same amino acid, therefore has no effect on the functioning of the protein.
Silent mutation(TOPNOTCH)
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An example of point mutation wherein a purine base is replaced by another purine base or a pyrimidine base is replaced by another pyrimidine base.
Transition(TOPNOTCH)
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A point mutation wherein a purine is replaced by a pyrimidine or vice versa.
Transversion(TOPNOTCH)
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Diseases caused by single gene defects are called?
Mendelian Disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228
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A condition wherein both dominant and recessive alleles of a gene pair may be fully expressed in the heterozygote.
Codominance(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228
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The presence of many allelic forms of a single gene is called _______.
Polymorphism(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228
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This occurs when one gene influences or leads to multiple phenotypic traits.
Pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228
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A phenomenon wherein a single phenotype or genetic disorder may be caused by mutations of several genetic loci or allele.
Genetic heterogeneity Note: compare with pleiotropy(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.228
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A transmission pattern of inheritance which is manifested in the heterozygous state, wherein at least one parent of an index case is usually affected, both males and females are affected and both can transmit the condition.
Autosomal dominant (AD)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229
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This pattern of inheritance occur when BOTH of the alleles at a given gene locus are mutants, wherein the parents are not affected, but offspring have 1 in 4 chance (25%) of being affected.
Autosomal recessive(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229
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Pattern of inheritance wherein the disorder is transmitted by heterozygous female carriers only to 50% of the sons. An affected male does not transmit the disorder to sons but all daughters are carriers.
X-linked disorders(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.229
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An autosomal dominant disorder of connective tissues characterized by abnormally long legs, arms and fingers, joint hyperextensibility, pectus excavatum, lens subluxation and increased risk of aortic dissection.
Marfan Syndrome(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230
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Integral component of elastic fibers defective in Marfan Syndrome.
Fibrillin 1(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230
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Fibrillin 1 is encoded by what gene?
FBN1 gene (chromosome 15q21)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.230
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A collection of disorders caused by defects in collagen synthesis or structure, characterized by hyperextensible skin and joint hypermobility, rupture of internal organs and poor wound healing.
Ehlers-Danlos SyndromesThere are 6 variants to Ehlers-Danlos (nice to know)(TOPNOTCH)Robbins Basic Pathology, 8th Ed p.231
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