HMX GENETICS/31 QUESTIONS
AND ANSWERS (A+)
SNV - √Answer :Any sequence change that affects one
base of genome
SNPs are common ones
Quiz :Promoter - √Answer :specific region of a gene
where RNA polymerase can bind and begin
transcription
Quiz :Nucleosome - √Answer :150 bps of DNA around
core proteins
Quiz :Stop Codons - √Answer :UAA, UAG, UGA
Quiz :Karyotype Analysis - √Answer :Usually done at
metaphase
Detects trisomy, deletions, duplications, translocations
Confirming test
Quiz :FISH Analysis - √Answer :Fluorescent ss nucleic
acid probe
Done during metaphase or interphase
Done fast but needs to be confirmed by karyotyping or
microarray
Quiz :Microarray - √Answer :Fragment and label DNA
Anneal DNA to microarray
, Used to detect CNVs
Confirming test
Quiz :5' UTR - √Answer :affects translation, RNA
stability, and is transcribed
Quiz :Independent Assortment -
√Answer :Recombination
Random metaphase plate organization (2^23 combos)
Quiz :Haplotype - √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
Quiz :Recombination Frequency - √Answer :Percentage
of meiosis where recombination separates 2 loci
50%=50cM=random assortment=unlinked is the highest
0%=tightly linked
Quiz :Haploinsufficiency - √Answer :1 bad gene leads to
bad phenotype
Quiz :Precision Medicine - √Answer :Target specific
genetics of a tumor (driver mutation)
Quiz :Simple Mendelian Genes - √Answer :1 gene leads
to trait (100% genotype)
AND ANSWERS (A+)
SNV - √Answer :Any sequence change that affects one
base of genome
SNPs are common ones
Quiz :Promoter - √Answer :specific region of a gene
where RNA polymerase can bind and begin
transcription
Quiz :Nucleosome - √Answer :150 bps of DNA around
core proteins
Quiz :Stop Codons - √Answer :UAA, UAG, UGA
Quiz :Karyotype Analysis - √Answer :Usually done at
metaphase
Detects trisomy, deletions, duplications, translocations
Confirming test
Quiz :FISH Analysis - √Answer :Fluorescent ss nucleic
acid probe
Done during metaphase or interphase
Done fast but needs to be confirmed by karyotyping or
microarray
Quiz :Microarray - √Answer :Fragment and label DNA
Anneal DNA to microarray
, Used to detect CNVs
Confirming test
Quiz :5' UTR - √Answer :affects translation, RNA
stability, and is transcribed
Quiz :Independent Assortment -
√Answer :Recombination
Random metaphase plate organization (2^23 combos)
Quiz :Haplotype - √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
Quiz :Recombination Frequency - √Answer :Percentage
of meiosis where recombination separates 2 loci
50%=50cM=random assortment=unlinked is the highest
0%=tightly linked
Quiz :Haploinsufficiency - √Answer :1 bad gene leads to
bad phenotype
Quiz :Precision Medicine - √Answer :Target specific
genetics of a tumor (driver mutation)
Quiz :Simple Mendelian Genes - √Answer :1 gene leads
to trait (100% genotype)
