HMX Genetics questions and answers
SNV Correct Answer: Any sequence change that affects one base of genome
SNPs are common ones
Promoter Correct Answer: specific region of a gene where RNA polymerase can
bind and begin transcription
Nucleosome Correct Answer: 150 bps of DNA around core proteins
Stop Codons Correct Answer: UAA, UAG, UGA
Karyotype Analysis Correct Answer: Usually done at metaphase
Detects trisomy, deletions, duplications, translocations
Confirming test
FISH Analysis Correct Answer: Fluorescent ss nucleic acid probe
Done during metaphase or interphase
Done fast but needs to be confirmed by karyotyping or microarray
Microarray Correct Answer: Fragment and label DNA
Anneal DNA to microarray
Used to detect CNVs
Confirming test
5' UTR Correct Answer: affects translation, RNA stability, and is transcribed
Independent Assortment Correct Answer: Recombination
Random metaphase plate organization (2^23 combos)
Haplotype Correct Answer: A group of alleles of different genes on a single
chromosome that are closely enough linked to be inherited usually as a
unit=Haplotype Block (10-20kB segment with SNP)
Gene inherited from single parent
SNV Correct Answer: Any sequence change that affects one base of genome
SNPs are common ones
Promoter Correct Answer: specific region of a gene where RNA polymerase can
bind and begin transcription
Nucleosome Correct Answer: 150 bps of DNA around core proteins
Stop Codons Correct Answer: UAA, UAG, UGA
Karyotype Analysis Correct Answer: Usually done at metaphase
Detects trisomy, deletions, duplications, translocations
Confirming test
FISH Analysis Correct Answer: Fluorescent ss nucleic acid probe
Done during metaphase or interphase
Done fast but needs to be confirmed by karyotyping or microarray
Microarray Correct Answer: Fragment and label DNA
Anneal DNA to microarray
Used to detect CNVs
Confirming test
5' UTR Correct Answer: affects translation, RNA stability, and is transcribed
Independent Assortment Correct Answer: Recombination
Random metaphase plate organization (2^23 combos)
Haplotype Correct Answer: A group of alleles of different genes on a single
chromosome that are closely enough linked to be inherited usually as a
unit=Haplotype Block (10-20kB segment with SNP)
Gene inherited from single parent
