NMNC 1210 Final Exam Review 2026 | Complete Nursing Study Guide & Key Concepts

1. Genetics Thefbstudyfboffbgenesfbandfbtheirfbrolefbinfbinheritancefb-
fbthefbwayfbthatfbcertainfbtraitsfborf b conditionsfbarefbpassedfbdownfbthroughfbgenes




2. Genomics Thefbstudyfboffballfbafbperson'sfbgenesfb(thefbgenome),fbincludingfbinteractionsfboffbthese
genesfbwithfbeachfbotherfbandfbwithfbthefbperson'sfbenvironmentfb-
fbincludesfbthefbstudyfboffbcomplexfbdiseases.




3. GeneticfbmutationfbAfbchangefbinfbafbgenefbthatfbattectsfbfunction.fbTypesfbincludefbnonsense,fbmissense,fbsilent,
fbandfbframewhift.fbAfbpathogenicfbvariantfbisfbafbmutationfbassociatedfbwithfbafbdiseas


e

4. GermlinefbMuta- Passfbfromfbparentfbtofbchild.fbThefbmutationsfbarefbpresentfbinfbthefboocytefbandfbspermfbcells.fbPr
tionsfb (hereditary esentfbthroughoutfbafbperson'sfblifefbinfbeveryfbcellfbinfbtheirfbbody.
)
OccurfbinfbthefbDNAfboffbafbcellfbatfbsomefbtimefbduringfbafbperson'sfblife.fbAnfbacquiredf
5. Acquiredfb(somat- bmutationfbpassesfbonfbtofballfbthefbcellsfbthatfbdevelopfbfromfbthatfbsinglefbcell.fbThesefb
ic)fbmutations mutationsfbinfbsomaticfbcellsfbcannotfbbefbpassedfbonfbtofbthefbnextfbgeneration.fbTheyfbocc
urf b iffbafbmistakefboccursfbasfbDNAfbreplicatesfbduringfbcellfbdivisionfborfbiffbenvironmental
fbfactorsfbalterfbthefbDNA.fbMayfbincreasefbriskfbforfbdevelopingfbcertainfbdiseases.




Causedfbbyfbafbmutationfboffbafbsinglefbgenefbpairfb(heterozygous)fbonfbafbchromosome.fbAfbdo
6. Autosomalfbdomi- minantfballelefbprevailsfboverfbafbnormalfballele
nant

7. Penetrance -fbThefbchancefbthatfbafbcarrierfboffbafbdominantfbmutationfbwillfbshowfbsignsfboffbthefbdisorder.
-
fbThefbpercentagefboffbindividualsfbwithfbafbparticularfbgenotypefbthatfbactuallyfbdisplaysf


b thefbphenotypefbassociatedfbwithfbthefbgenotype.




8. Incompletefbpen- sivity
etrance


9. VariablefbExpres-

,Occursfbwhenfbafbpersonfbwithfbafbg
eneticfbmutationfbdoesfbnotfbhav
efbsignsfboffbthefbdisorder.fb(pare
ntfbwithfbafbgeneticfbmutationfb
doesfbnotfbhavefbsignsfboffbafbdis
orderfbbutfbthefbchildfbdoes).

Thefbwayfbthefbphenotypefbma
nifests.fbAccountsfbforfbhowfbsy
mptomsfboffbdisordersfbvaryfbfr
omfbpersonfbtofbperson.
ofbMorefbcommonfbthanfbrecessivefb
disordersfbandfbusuallyfblessfbsevere

, o Attectedfbpersonsfbshowfbvariablefbexpressions
o Attectedfbpersonsfbmayfbhavefbattectedfbparent
o Childrenfboffbafbheterozygousfb(attectedfbparent)fbhavefbafb50%fbchancefboffbbei
ngfbattected
o Attectsfbpersonsfbinfbsuccessivefbgenerations.fb
Examples:
- BreastfbandfbovarianfbcancerfbrelatedfbtofbBRCAfbgenes
- Famililalfbhypercholesterolemia
- Herediatyf b nonpolyposisf b colorectalf b cancer
- Huntingtonfbdisease
- Neurofibromatosis
- Marfanfbsyndrome

10. AutosomalfbRe- Causedfbbyfbmutationsfboffb2fbgenefbpairsfb(homozygous)fbonfbafbchromosome.fbAfbpers
cessivefbInheri- onfbwhofbinheritsfb1fbcopyfboffbthefbrecessivefballelefbdoesfbnotfbdevelopfbthefbdiseasefb
tance becausefbthefbnormalfballelefbpredominates.fbHowever,fbthisfbpersonfbisfbafbcarrier.
o Heterozygotesfbarefbcarriersfbandfbusuallyfbasymptomatic
o Attectedfbpersonsfbmayfbhavefbunattectedfbparentsfbwhofbarefbheterozygousfbforfbtrait
o Childrenfboffb2fbheterozygousfbparentsfbhavefb25%fbchancefboffbbeingfbattectedfban
dfbafb50%fbchancefboffbbeingfbafbcarrier
o Oftenfbnofbfamilyfbhistoryfboffbdisease
- Cysticfbfibrosis
- Phenylketonuria
- Sicklefbcellfbdisease
- Tay-sachsfbdisease
- Thalassemia

11. X-linkedfbreces- CausedfbbyfbafbmutationfbonfbthefbXfbchromosome.fbTheyfbcanfbseverelyfbattectfbmenfbbecaus
sive efbtheyfbhavefbonlyfb1fbXfbchromosome.fbWomenfbwhofbcarryfbthefbmutatedfbgenefbcanfbtran
smitfbitfbtofbtheirfbottspring.
ofbmostfbattectedfbpersonsfbhavefbunattectedfbparents
ofbusuallyfbmalesfbwhofbarefbattected

, ofbdaughtersfboffbattectedfbmalesfbarefbcarriers
ofbSonsfboffbattectedfbmalesfbarefbunattectedfb(unlessfbmotherfbisfbafbcarrier)
- Duchennefbmuscularfbdystrophy
- Hemophilia
- Wiskott-Aldrichfbsyndrome

12. Epigenetics
Thefbstudyfboffbinheritablefbchangesfbinfbgenefbexpressionfbthatfbdofbnotfbinvolvefbchan
gesfbinfbthefbDNAfbsequence.fbTherefbisfbafbchangefbinfbphenotypefbwithoutfbafbchangefbinfbgen
otype.fbEpigeneticfbmodificationsfbdefinefbhowfbthefbinformationfbinfbgenesfbisfbexpr
essedfbandfbusedfbbyfbcells.

13. Heterozygous •fbHavingfb2fbditterentfballelesfbforfb1fbgivenfbgene,fbIfbinheritedfbfromfbeachfbparent.

14. Homozygous •fbHavingfb2fbidenticalfballelesfbforfb1fbgivenfbgene,fb1fbinheritedfbfromfbeachfbparent.

15. Chromosome
•fbMicroscopicfbstructuresfbinfbthefbcellfbnucleusfbcomposedfboffbchromatin,fbwhichfbc
ontainfbgeneticfbinformation.fbEachfbcellfbnormalfbhasfb46fbchromosomesfbinfb23fbpairsf
b(22fbautosomes,fbandfb2fbsexfbchromosomes).




16. Autosome •fbAfbchromosomefbotherfbthanfbXfborfbY.fbThefbhumanfbgenomefbhasfb44fbautosomesfb(22
pairsfboffbautosomes)

17. Locus Locationfboffbafbgenefbonfbafbchromosome

18. Allele Onefboffbafbseriesfboffbalternativefbformsfb(genotypes)fbatfbafbspecificfbregionfb(locus)fboffba
chromosome.fbItfbisfbonefboffbtwofborfbmorefbalternativefbformsfboffbafbgenefbthatfboccup
yfbcorrespondingfblocifbonfbhomologousfbchromosomes.fbEachfballelefbcodesfbforfbafbspeci
ficfbinheritedfbcharacteristic.