2 Pedigrees Visually displays inheritance patterns across a family tree Useful for tracing the inheritance patterns of disease and other genetic abnormalitiesAutosome: A non-sex chromosome, equal number of copies of these chromosomes in males an females22 autosomal pairs in humans + 1 pair sex chromosomes
3 Pedigree Basics Females represented by circles Males represented by squareUnaffected or CarrierAffectedUnaffected or CarrierAffected
4 Pedigree Basics Horizontal lines connect parents Vertical lines denote descendants of parentsAll offspring of the same parents are connected by horizontal linesParentsOffspring
5 Pedigree BasicsIndividuals are numbered left to right starting from the first line and continue down the whole pedigree12134567
6 Analyzing a Pedigree Autosomal Dominant Inheritance Trait usually does not skip generationsAn affected person married to an unaffected person should have approximately 50% of the offspring being affected.Affected individual is heterozygous for the traitDistribution of the trait should be close to equal distribution among the sexes.
8 Analyzing a Pedigree Autosomal Recessive Inheritance Trait can skip generations.Distribution of the trait should be close to equal distribution among the sexes.Traits are often found in pedigrees with consanguineous marriages (Marriage among close relatives).If both of the parents are affected, all of the children should be affected.Most affected individuals have "normal" parents who were carriers.When an unaffected person is married to an affected individual, all of the children are normalThe normal parent is homozygous dominantIf a heterozygous carrier is married to an affected individual, then approximately half of the children should be affected.Showing that the "normal" parent is heterozygous
9 Pedigree of autosomal recessive trait Homozygous recessive individual are unlikely live to reproductive age.Typically, occurrences of the condition will be in matings between two heterozygotes (or carriers)¼ chance that any child will be affected
10 CarriersCarriers of a trait will not express the trait but their offspring may exhibit the trait
11 Blood TypesImportant to know blood type because giving someone the wrong blood type leads to severe complications and deathIndividuals carry antibodies to non-self blood types
12 Blood Types Basic rules: Type A : AA or AO Type B: BB or BO Type O: OO Antibodies against type BType B: BB or BOAntibodies against type AType O: OOUniversal donor, no antigensType AB: ABUniversal acceptor, no antibodies
14 Lab Exam Lab exam 2 Next Week Know everything that is on the study guide
15 Exam 2 Review Punnet squares Cell cycle lab Pedigrees Know the phases of mitosis and be able to calculate time spent in each cell cycle (remember, 16 hours is not a constant!)Punnet squaresKnow how to analyze genetic crossesKnow how to calculate genotypic and phenotypic ratios, percentages, etc…PedigreesBe able to draw and analyze a pedigree
16 Exam 2 Material PCR Understand what is happening in the reaction Know what each reagent does and what role each plays in the reactionKnow the rules of primer design, and be able to make both forward and reverse primersKnow what is happening and the temperatures during denaturation, annealing, and elongation.