Genetic linkage and mapping US Medical PG Flashcards - Medical Study Cards
Master Genetic linkage and mapping with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Genetic linkage and mapping Flashcard Deck - 10 Cards
Flashcard 1: If mutations at different loci can produce a similar phenotype, a disease has _____
Answer: locus heterogeneity
Flashcard 2: _____ describes the presence of genetically distinct cell lines in the same individual
Answer: Mosaicism
Flashcard 3: _____ are a laboratory technique used to profile gene expression levels of thousands of genes simultaneously to study certain diseases and treatments
Answer: Microarrays
Flashcard 4: What two types of variations in DNA are detected when using microarrays? (DNA markers)_____
Answer: - Single nucleotide polymorphisms (SNPs) - Copy number variations (CNVs)
Flashcard 5: What is the mode of inheritance of Rett syndrome? _____
Answer: X-linked dominant
Flashcard 6: If different mutations at the same locus produce the same phenotype, a disease has _____
Answer: allelic heterogeneity
Flashcard 7: Autosomal dominant diseases are often due to defects in _____ genes
Answer: structural
Flashcard 8: What triplet is associated with Huntington's disease?
Answer: CAG
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Flashcard 9: What triplet is associated with Fragile X syndrome?
Answer: CGG
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Flashcard 10: What triplet is associated with myotonic dystrophy?
Answer: CTG
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