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Extensions and Modifications of Basic Principles

Lethal alleles • 1905 - Lucien Cuenot mated two yellow mice o !"# of the offsprin$ were yellow% 1"# were not o &ll of the yellow mice were hetero'y$ous% none of the yellow mice (red true • )o there were two stran$e findin$s here o *he phenotypic ratio was !+1, not a Mendelian ratio o *here were no homo'y$ous yellow mice • *he !+1 ratio is almost always indicati-e of the presence of a recessi-e lethal allele • &chondroplasia o &ffects a(out 1 in !5,000 people o .ead and torso de-elop normally (ut arms and le$s are short o /t is inherited in a dominant manner /ncomplete dominance • *his is seen when hetero'y$otes ha-e phenotypes that are intermediate (etween the two homo'y$otes • /n incomplete dominance, the phenotypic and $enotypic ratios are e0ual o Each $enotypic class has a separate phenotype Codominance • .etero'y$otes simultaneously express the phenotypes of both homo'y$otes Multiple alleles • 1hen there are more than two alleles controllin$ a trait, we ha-e multiple alleles • &B2 (lood $roup • *his is a classic example of (oth codominance and multiple alleles o *here are three alleles controllin$ this trait - IA, IB, i o *he presence or a(sence of the different (lood type anti$ens on the red (lood cells determines (lood type o 3our (lood type also determines the type4s5 of (lood that you can recei-e in a transfusion Penetrance and expressi-ity • /ncomplete penetrance o 6ot all persons ha-in$ the $enotype for a particular trait will express the phenotype o Penetrance is the percenta$e of indi-iduals ha-in$ that $enotype and actually expressin$ the phenotype • 7aria(le expressi-ity o 8ifferent affected indi-iduals will display the phenotype to different de$rees o Polydactyly is a classic example of (oth incomplete penetrance and -aria(le expressi-ity 9ene interaction • 2ften, $enes at different loci contri(ute to a particular phenotype

you $et red. all of the offsprin$ are red o *his is o(-iously a simple case of red (ein$ dominant • But. if you cross the :1. o R allele produces red pi$ment o r allele produces no red pi$ment o C allele leads to the decomposition of chlorophyll o c allele allows chlorophyll to persist 9ene interaction . are affected (y the sex of an indi-idual )ex-influenced characteristics • 8etermined (y autosomal $enes o 8ifferential penetrance in females and males • /n some $oats. peach. a person can ha-e an &B2 (lood type $enotype that doesn>t match their (lood type 425 phenotype o *here is a $ene that is re0uired to attach the proper su$ars to ma<e the mar<ers o /ndi-iduals who are homo'y$ous recessi-e 4hh5 do not produce the en'yme to carry out this tas< 8ominant epistasis • )ometimes the presence of only one allele can produce the mas<in$ effect 8uplicate recessi-e epistasis • Pi$mentation in these snails re0uires the production of two en'ymes in the pathway *hin$s ha-en>t really chan$ed that much from the 9+#+#+1 ratio )ex and heredity • )ome characteristics. Bb is dominant in males% recessi-e in females • Pattern (aldness in humans o &ppears to (e dominant in males% recessi-e in females o =elated to the production of male sex hormones )ex-limited characteristics • 9ene is only expressed in one sex Cytoplasmic inheritance • /nheritance of mitochondria 4and chloroplasts5 occurs only throu$h the e$$ .epistasis • )ometimes one $ene can mask the effect of another $ene at a different locus • *he $ene that does the mas<in$ is the epistatic $ene% the $ene that is mas<ed is the hypostatic $ene =ecessi-e epistasis • *he Bom(ay phenotype and (lood typin$ o /n -ery rare instances.• /f you cross a red pepper with a cream pepper. e-en thou$h they are controlled (y $enes on autosomes. oran$e. and cream.

two disorders • Prader-1illi and &n$elman syndromes o *here is a deletion in chromosome 15 o /f inherited from the father. &n$elman 9enes and the en-ironment • /n many cases.000 (p% #? $enes.imalayan ra((its • Blac< is seen at the extremities if the ra((it is reared at !0@C or less • 6o (lac< is seen if the ra((it is reared at #0@C or a(o-e . only the paternal copy is expressed in the fetus and placenta% the maternal copy of the $ene is completely silent • 9enetic-conflict hypothesis o *his seems to occur (ecause the paternal copy promotes placental and fetal $rowth (y directin$ more of the maternal nutrients to the fetus o *he maternal copy would select for smaller fetal si'e 9enomic imprintin$ • 8ifferential expression of $enetic material dependin$ on which parent contri(uted the allele • 2ne deletion. the $enotype determines a ran$e of phenotypes • *he en-ironmental conditions determine the norm of reaction • . Prader-1illi o /f inherited from the mother.o *he sperm contri(utes no cytoplasm Mitochondria • Contain 86& • 15. mitochondrial disorders are hi$hly -aria(le 9enetic maternal effect • *he offsprin$>s phenotype is determined (y the mother>s $enotype • )hell coilin$ in the snail Limnaea peregra is determined -ery early and depends on a su(stance present in the e$$ 9enomic imprintin$ • Birth wei$ht in mice and humans is affected (y a num(er of $enes includin$ Igf2 • 2ddly. most in-ol-ed in ener$y meta(olism • Most cells contain !-10 mitochondria. therefore !-10 copies of mt86& • Because mitochondria se$re$ate randomly when the cell di-ides.