Chapters 11-12

* True-breeding * Hybridization * P generation * F 1 generation * F 2 generation * Alleles * Dominant * Recessive * Homozygous * Heterozygous (hybrid)

* Law of segregation * Law of independent assortment

* in-genetics in-genetics

* Complete dominance * Incomplete dominance * Codominance

* Maybe recessive at organismal level, but codominant at molecular level * Ex. Tay Sachs

* Blood types

* Genes may have multiple phenotypic effects * Ex. Sickle cells, cystic fibrosis

* A gene at one locus affects a gene at another locus * Ex. Labrador retrievers p 217

* Many genes involved * Ex. Human skin color and height

* Multifactorial-may include genetic and environmental factors * Ex. Heart disease, diabetes, cancer, alcholism, mental illnesses

* To wed a cousin or not to wed, that is the question…

* Albinism * Cystic fibrosis 1/2500 of European descent (4% are carriers) * Sickle Cell Anemia (1/400 African Americans) (2 alleles  full blown, but organismal level- incompletely dominant; heterozygotes have sickle trait-but may have trouble when oxygen low; molecular  codominant)

* Huntington’s Choreahttp:// 1olEpQMhttp:// 1olEpQM * Achondroplasia * Polydactyly

* Sutton, Boveri, et.al * Mendelian genes have specific loci along chromosomes, and it is the chromosomes that undergo segregation and independent assortment

* Fly guy-Drosophila melanogaster * Great experimental organism * Small, large # of offspring, short life span, 8 chromosomes, easily observed traits Phenotype most commonly observed in natural populations~wild type; alternatives~mutant phenotypes Invented notation – use letter of first mutant discovered and wild is indicated with + So, red eyes are dominant and the wild type: w+ White eyes were first mutant: w

* SRY-sex determining region of the Y * Y-linked * X-linked

* Males can’t be carriers * Males get it from Mom * Males have it more often * Color blindness * Hemophilia-Royal disease (Queen Victoria) * Duchenne muscular dystrophy

* One of the X chromosomes is inactivated in embryonic development * Barr Body (Mary Lyon found it is random)-leads to a mosaic * Tortoiseshell cat

* Attach methyl groups to DNA * On one X, XIST (X-inactive specific transcript) becomes active  makes RNA product that attaches to one and  Barr body

* _UcDhzjOio _UcDhzjOio

* Abnormal chromosome number * Nondisjunction in anaphase I or II * Monosomy * Trisomy * Polyploid * Down syndrome * Klinefelter * Turner

* Deletion * Duplication * Inversion * Translocation

* Cri du chat deletion of part of #5 * CML- chronic myelogenous leukemia reciprocal translocation between #9 and #22-shortened 22  Philadelphia chromosome

* Angelmans syndrome as/diagnosis/ as/diagnosis/ * Prader-Willi’s syndromehttp:// 6nzi5Rc4wYhttp:// 6nzi5Rc4wY

* Decade of the genome: * Hemophilia –the royal disease: * Other disorders: st=PL199EFC951657FAA4&index=4 st=PL199EFC951657FAA4&index=4 * Williams syndrome sfilms