1. Sex-linked./traits:./Traits./that./are./inherited./with./sex./chromosomes
2. Autosomal./traits:./Traits./that./are./inherited./with./non-sex./chromosomes
3. X-
linked./recessive./disorders:./Genetic./variants./on./the./X./chromosome;./more./common./in./males../Both./cop
ies./of./the./gene./must./be./altered./in./female,./but./only./one./copy./must./be./altered./in./males../Ex:./colorblindness.
4. X-
linked./dominant./disorders:./Genetic./variants./on./the./X./chromosome../Only./one./altered./copy./of./the./gen
e./is./needed./to./cause./the./condition./in./both./males./and./females../Very./rare.
5. Autosomal. / dominant. / disorders:. / Caused./by./variants./in./genes./found./on./non-
sex./chromosomes../Only./one./altered./copy./of./the./gene./is./needed./to./cause./an./ettect../Ex:./Huntington./dx.
6. Autosomal./recessive./disorders:./Caused./by./variants./in./genes./found./on./non-
sex./chromosomes../Both./copies./of./the./gene./must./be./altered./to./cause./an./ettect../Ex:./cystic./fibrosis.
7. Lack./of./variability./in./a./species./may./lead./to./more./
.:./autosomal./recessive./disorders
8. Define./heterozygote./advantage:./An./individual./with./one./mutated./copy./of./a./gene./and./one./normal
./copy./may./have./advantages./against./certain./pathogens./without./suttering./from./symptoms./of./the./disease../Explains./
why./certain./diseases./stay./prevalent./over./history./in./geographical./regions./or./cultures.
9. Give. / two. / examples. / of. / the. / heterozygote. / advantage:. / Tay-
Sachs./heterozygote./advantage
against./tuberculosis,./and./Sickle./Cell./heterozygote./advantage./against./malaria.
10. Mutations. / in. / the. / tumor. / suppressor. / gene. / BRCA. / 1. / and. / 2. / may. / lead. / to. /
.:./breast./and./ovarian./cancers
11. Inactivation./of./tumor./suppressor./gene./APC./may./result./in./
.:./colorectal./cancers
12. How./do./mutations./in./the./retinoblastoma./(Rb)./gene./lead./to./cancer?:./Rb./monitors./
antigrowth./cellular./signals./(like./contact./with./other./cells)./and./blocks./activation./of./the./growth/division./phase./in./the./c
ell./cycle../Mutations./lead./to./perisistant./growth.
13. Genotype:./The./unique./sequence./of./DNA
14. Phenotype:. / The./detectable./expression./of./the./genotype,./or./clinical./presentation
15. Penetrance:./The./proportion./of./individuals./with./a./disorder-
causing./mutation./who./actually./exhibit./clinical./symptoms../Ex:./Huntington./dx./is./autosomal./dominant,./and./th
erefore./has./a./100%./penetrance.
./ .
/
, 16. Cosanguinity:./Genetic./relatedness./between./individuals./descended./from./at./least./one./common./ancestor
../Cosanguineous./relationships./result./in./decreased./variability./of./a./population.
./ .
/
2. Autosomal./traits:./Traits./that./are./inherited./with./non-sex./chromosomes
3. X-
linked./recessive./disorders:./Genetic./variants./on./the./X./chromosome;./more./common./in./males../Both./cop
ies./of./the./gene./must./be./altered./in./female,./but./only./one./copy./must./be./altered./in./males../Ex:./colorblindness.
4. X-
linked./dominant./disorders:./Genetic./variants./on./the./X./chromosome../Only./one./altered./copy./of./the./gen
e./is./needed./to./cause./the./condition./in./both./males./and./females../Very./rare.
5. Autosomal. / dominant. / disorders:. / Caused./by./variants./in./genes./found./on./non-
sex./chromosomes../Only./one./altered./copy./of./the./gene./is./needed./to./cause./an./ettect../Ex:./Huntington./dx.
6. Autosomal./recessive./disorders:./Caused./by./variants./in./genes./found./on./non-
sex./chromosomes../Both./copies./of./the./gene./must./be./altered./to./cause./an./ettect../Ex:./cystic./fibrosis.
7. Lack./of./variability./in./a./species./may./lead./to./more./
.:./autosomal./recessive./disorders
8. Define./heterozygote./advantage:./An./individual./with./one./mutated./copy./of./a./gene./and./one./normal
./copy./may./have./advantages./against./certain./pathogens./without./suttering./from./symptoms./of./the./disease../Explains./
why./certain./diseases./stay./prevalent./over./history./in./geographical./regions./or./cultures.
9. Give. / two. / examples. / of. / the. / heterozygote. / advantage:. / Tay-
Sachs./heterozygote./advantage
against./tuberculosis,./and./Sickle./Cell./heterozygote./advantage./against./malaria.
10. Mutations. / in. / the. / tumor. / suppressor. / gene. / BRCA. / 1. / and. / 2. / may. / lead. / to. /
.:./breast./and./ovarian./cancers
11. Inactivation./of./tumor./suppressor./gene./APC./may./result./in./
.:./colorectal./cancers
12. How./do./mutations./in./the./retinoblastoma./(Rb)./gene./lead./to./cancer?:./Rb./monitors./
antigrowth./cellular./signals./(like./contact./with./other./cells)./and./blocks./activation./of./the./growth/division./phase./in./the./c
ell./cycle../Mutations./lead./to./perisistant./growth.
13. Genotype:./The./unique./sequence./of./DNA
14. Phenotype:. / The./detectable./expression./of./the./genotype,./or./clinical./presentation
15. Penetrance:./The./proportion./of./individuals./with./a./disorder-
causing./mutation./who./actually./exhibit./clinical./symptoms../Ex:./Huntington./dx./is./autosomal./dominant,./and./th
erefore./has./a./100%./penetrance.
./ .
/
, 16. Cosanguinity:./Genetic./relatedness./between./individuals./descended./from./at./least./one./common./ancestor
../Cosanguineous./relationships./result./in./decreased./variability./of./a./population.
./ .
/
