Molecular Genetics — Flashcards

Flashcard 741: Hemoglobin C disease is caused by a mutation in the _____ chain of hemoglobin

Answer: Beta (β) globin

Extra: Hemoglobin C (HbC) is caused by a missense mutation in the **β-globin** gene, resulting in the substitution of **glutamic acid** with **lysine** at position 6 (Glu6Lys). Mnemonic: Ly**C**ine for Hb**C**; **V**al**S**ine for Hb**S**.

Flashcard 742: DNA replication errors lead to _____ mutations

Answer: mismatch base

Flashcard 743: There is an increased risk of autosomal recessive diseases in _____ families

Answer: consanguineous

Flashcard 744: The closer the recombination frequency is to _____%, the closer alleles in a haplotype are to each other

Answer: 0

Flashcard 745: Topoisomerase _____ induces breaks in single strands of DNA

Answer: I

Flashcard 746: Elastin is tropoelastin with _____ scaffolding

Answer: fibrillin

Flashcard 747: What form of chromatin is less condensed? _____

Answer: Euchromatin

Flashcard 748: Sister chromatids are joined together at the end of S phase at the _____

Answer: centromere

Flashcard 749: Cyclin D1 sits on chromosome _____

Answer: 11

Flashcard 750: What is the inheritance of familial hypocalciuric hypercalcemia (FHH)? _____

Answer: Autosomal dominant