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HMX Genetics questions and answers

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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 Answe

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October 18, 2022
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Written in
2022/2023
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  • hmx genetics questions and answers

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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
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