Single Nucleotide Polymorphisms — Flashcards

Flashcard 1: HLA genes are _____, located on chromosome _____ inherited from each parent.

Answer: Codominant; Chromosome 6

Flashcard 2: The generation of diversity in the variable regions of immunoglobulins occurs through _____ gene recombination.

Answer: VDJ

Extra: VDJ recombination is responsible for the assembly of the **variable region** and occurs in the bone marrow (antigen-independent). In contrast, **isotype switching** (class switch recombination) involves the **constant region** and occurs in secondary lymphoid organs like the lymph nodes (antigen-dependent).

Flashcard 3: HLA complex of genes is located on the short arm of chromosome _____

Answer: 6 (chromosome 6p21).

Flashcard 4: _____ assay is used in the screening of recombinant vectors for inserted DNA fragments

Answer: Blue-white

Flashcard 5: The total number of standard aminoacids encoded by triplet codons in the human genetic code is _____.

Answer: 20

Flashcard 6: FISH may be carried out in Metaphase or _____phase of the cell cycle.

Answer: Inter

Flashcard 7: _____ test is a widely used biological assay to assess the mutagenic potential of chemical compounds.

Answer: Ames

Flashcard 8: There are approximately _____ genes present in the human genome.

Answer: 20,000-25,000

Extra: The number of protein-coding genes in the human genome was initially estimated by the Human Genome Project to be around 30,000-40,000, but has since been refined to approximately 20,000-25,000.

Flashcard 9: DNA _____ at CpG islands represses transcription

Answer: methylation

Flashcard 10: Histone _____ usually activates DNA transcription

Answer: acetylation