BMS Midterm Exam with verified answers
Ataxia |Telangiectasia |(AT) |molecular |defect |(1) |- |correct |answer |-ATM |Protein
Ataxia |Telangiectasia |(AT) |DNA |repair |pathway |- |correct |answer |-DSB |Repair
Cockayne |Syndrome |(CS) |molecular |defect |(2) |- |correct |answer |-CSA |or |CSB
Cockayne |Syndrome |(CS) |DNA |repair |pathway |- |correct |answer |-TC-NER
Xeroderma |Pigmentosum |(XP) |molecular |defect |(4) |- |correct |answer |-XPC, |XPE, |XPA, |XPD
Xeroderma |Pigmentosum |(XP) |DNA |repair |pathway |- |correct |answer |-GG-NER
(pyrimidine |dimers)
Werner |Syndrome |(WS) |molecular |defect |- |correct |answer |-Rec |Q |family |DNA |helicase |WRN
Werner |Syndrome |(WS) |DNA |repair |pathway |- |correct |answer |-BER
Ataxia |Oculomotor |Apraxia |(AOA1) |molecular |defect |- |correct |answer |-APTX |gene
Ataxia |Oculomotor |Apraxia |(AOA1) |DNA |repair |pathway |- |correct |answer |-SSB |repair
Breast |Cancer |molecular |defect |- |correct |answer |-BRCA1/2
Breast |cancer |DNA |repair |pathway |- |correct |answer |-DSB |- |homologous |repair
Lynch |Syndrome |molecular |defect |- |correct |answer |-MSH2, |MLH1
, Lynch |Syndrome |DNA |repair |pathway |- |correct |answer |-MMR
HbA |- |correct |answer |-alpha2 |beta2
HbF |- |correct |answer |-alpha2 |gamma2
HbA2 |- |correct |answer |-alpha2 |delta2
HbA1c |- |correct |answer |-alpha2 |beta2 |- |glucose
HbS |- |correct |answer |-Glu |--> |Val |at |B6
HbC |- |correct |answer |-Glu |--> |Lysine |at |B6
HPFH |- |correct |answer |-persistence |of |fetal |hemoglobin
HbH |- |correct |answer |-Beta4 |tetramer
Hb |Bart's |- |correct |answer |-gamma |4
Prokaryote |DNA |gyrase |(unique) |- |correct |answer |-can |introduce |negative |supercoils |into |circular
|DNA |(requires |ATP)
Prokaryote |DNA |pol |I |- |correct |answer |-replication |(primer |removal, |gap |synthesis), |repair
3' |to |5'; |5' |to |3'
Prokaryote |DNA |pol |II |- |correct |answer |-repair
3' |to |5'
Ataxia |Telangiectasia |(AT) |molecular |defect |(1) |- |correct |answer |-ATM |Protein
Ataxia |Telangiectasia |(AT) |DNA |repair |pathway |- |correct |answer |-DSB |Repair
Cockayne |Syndrome |(CS) |molecular |defect |(2) |- |correct |answer |-CSA |or |CSB
Cockayne |Syndrome |(CS) |DNA |repair |pathway |- |correct |answer |-TC-NER
Xeroderma |Pigmentosum |(XP) |molecular |defect |(4) |- |correct |answer |-XPC, |XPE, |XPA, |XPD
Xeroderma |Pigmentosum |(XP) |DNA |repair |pathway |- |correct |answer |-GG-NER
(pyrimidine |dimers)
Werner |Syndrome |(WS) |molecular |defect |- |correct |answer |-Rec |Q |family |DNA |helicase |WRN
Werner |Syndrome |(WS) |DNA |repair |pathway |- |correct |answer |-BER
Ataxia |Oculomotor |Apraxia |(AOA1) |molecular |defect |- |correct |answer |-APTX |gene
Ataxia |Oculomotor |Apraxia |(AOA1) |DNA |repair |pathway |- |correct |answer |-SSB |repair
Breast |Cancer |molecular |defect |- |correct |answer |-BRCA1/2
Breast |cancer |DNA |repair |pathway |- |correct |answer |-DSB |- |homologous |repair
Lynch |Syndrome |molecular |defect |- |correct |answer |-MSH2, |MLH1
, Lynch |Syndrome |DNA |repair |pathway |- |correct |answer |-MMR
HbA |- |correct |answer |-alpha2 |beta2
HbF |- |correct |answer |-alpha2 |gamma2
HbA2 |- |correct |answer |-alpha2 |delta2
HbA1c |- |correct |answer |-alpha2 |beta2 |- |glucose
HbS |- |correct |answer |-Glu |--> |Val |at |B6
HbC |- |correct |answer |-Glu |--> |Lysine |at |B6
HPFH |- |correct |answer |-persistence |of |fetal |hemoglobin
HbH |- |correct |answer |-Beta4 |tetramer
Hb |Bart's |- |correct |answer |-gamma |4
Prokaryote |DNA |gyrase |(unique) |- |correct |answer |-can |introduce |negative |supercoils |into |circular
|DNA |(requires |ATP)
Prokaryote |DNA |pol |I |- |correct |answer |-replication |(primer |removal, |gap |synthesis), |repair
3' |to |5'; |5' |to |3'
Prokaryote |DNA |pol |II |- |correct |answer |-repair
3' |to |5'
