| mendel
                        
                                                                                    
                                                                                            | worked w pea plants |  
                                                                                            | his theory us one of particulate inheritance | inherited characteristics are carried by genes |  nondisjunction
                        
                                                                                    
                                                                                            | error in meiosis where homologous chromosomes fail to separate as they should |  
                                                                                            | one gamete receives two of the same type of chromosome and other receives no copy |  
                                                                                            | remaining chromosomes may be unaffected and normal |  
                                                                                            | if either aberrant gamete unites w normal gamete during fertilization, resulting zygote will have abnormal # of chrom |  
                                                                                            | aneuploidy | any abnormal number of chromosomes |  
                                                                                            | trisomy | if chromosome is present in triplet |  
                                                                                            | trisomy 21 (Down syndrome) | extra chromosome 21 |  
                                                                                            | cancer cells grown in culture almost always have extra chromosomes |  
                                                                                            | organism in which cells have extra set of chromosomes is triploid (3n) |  
                                                                                            | 4n tetraploid |  
                                                                                            | strawberries r octoploid |  
                                                                                            | polyploidy is COMMON in PLANTS |  
                                                                                            | results in platens of abnormally large size |  
                                                                                            | in some cases in responsible for evolution of new species |  crossover and linkage mapping
                        
                                                                                    
                                                                                            | chiasma | physical bridge around point of exchange |  
                                                                                            | result of crossover is recombination |  
                                                                                            | crossover and recombination are major sources of variation in sexually reproducing organisms |  
                                                                                            | one map unit distance on chromosome is distance within which recombination occurs 1 percent of the time |  
                                                                                            | crossover/recombination frequency |  
                                                                                            | recombination frequency | number of recombinants / total #offspring X 100 |  
                                                                                            | can find recom frequency fro linked genes this way |  
                                                                                            | is expressed as a percent |  dihybrid cross
                        
                                                                                    
                                                                                            | genotype (AaBb x AaBb) | 9:3:3:1 |  linked genes
                        
                                                                                    
                                                                                            | is OPP to ia |  
                                                                                            | if height is linked to seed color, genes will not segregate independently |  
                                                                                            | on SAME chromosome |  
                                                                                            | genes that are adjacent and close to each other on same chromosome tend to move as unit and do NOT segregate |  
                                                                                            | genotype for two traits is dihybrid |  
                                                                                            | humans have 46 chromosomes, so have 46 linkage groups |  mendels second law: law of segregation
                        
                                                                                    
                                                                                            | during formation of gametes, two traits carried by each parent separate |  
                                                                                            | are not linked |  
                                                                                            | ex: monohybrid cross |  
                                                                                            | trait not identified in either parent appears in F1 generation (recessive when 2 hetero) |  intro
                        
                                                                                    
                                                                                            | people used to think that inheritance was blended, a mixture of fluids that passed from parents to children |  probability
                        
                                                                                    
                                                                                            | prob can predict average outcome |  
                                                                                            | absolute certainty is 1 |  
                                                                                            | multiply | prob of two independent events, multiply chance of one by chance of other |  
                                                                                            | ex: chance of a couple having two boys (1/2 x 1/2) |  
                                                                                            | add | more than one arrangement of events producing the specified outcome is possible |  
                                                                                            | order matters |  
                                                                                            | ex: couple having children, one boy one girl in either order |  
                                                                                            | boy and then girl is 1/2 x 1/2 = 1/4 |  
                                                                                            | girl then boy is 1/4 too |  
                                                                                            | 1/4 + 1/4 = 1/2 |  mendels third law: law of independent assortment
                        
                                                                                    
                                                                                            | applies when cross is carried out bet two individuals hybrid for two or more traits |  
                                                                                            | that are NOT on the same chromosome |  
                                                                                            | dihybrid cross |  
                                                                                            | ex: height segregates independently from seed color |  
                                                                                            | only factor that det how these alleles segregate or assort is how homologous pairs line up in metaphase 1 which is random |  mendels first law: law of dominance
                        
                                                                                    
                                                                                            | only dominant trait shows |  
                                                                                            | recessive is hidden |  |  | incomplete dominance
                        
                                                                                    
                                                                                            | BLENDING |  
                                                                                            | neither trait is dominant |  
                                                                                            | genotype is cap letters |  
                                                                                            | ex: red Japanese flower crossed w white one |  
                                                                                            | produces pink offspring |  chromosomal abberations
                        
                                                                                    
                                                                                            | deletion | fragment lacking a centromere is lost during cell division |  
                                                                                            | inversion | chromosomal fragment reattaches to its go chromosome but in reverse orientation |  
                                                                                            | translocation | fragment of chromosome becomes attached to a non homologous chrom |  
                                                                                            | polyploidy | when cell or organism has extra SETS? of chromosomes |  X inactivation
                        
                                                                                    
                                                                                            | early in development of the embryo of female mammal, one of the X chromosomes is inactivated in every somatic (body cell) |  
                                                                                            | embryo | an unborn or unhatched offspring in the process of development |  
                                                                                            | inactivation occurs randomly |  
                                                                                            | results in embryo that is a genetic mosaic (some cells have one X activated, some have other) |  
                                                                                            | all cells of female mammals are NOT identical |  
                                                                                            | inactivated chromosome condenses into dark spot of chromatin can be seen at the outer edge of nucleus of all somatic cells in female |  
                                                                                            | ^ Barr body |  
                                                                                            | ex female calico cats (pg 141) |  
                                                                                            | another ex of x chrom inactivation is when certain x linked recessive mutation prevents the development of sweat glands |  
                                                                                            | heterozygous for some does NOT mean carrier |  
                                                                                            | ^ has patches of normal skin and patches of skin lacking sweat glands |  polygenic inheritance
                        
                                                                                    
                                                                                            | blending of several sep genes that vary along a continuum |  
                                                                                            | bell shaped curve |  
                                                                                            | ex: skin color, hair color, height |  epistasis
                        
                                                                                    
                                                                                            | two separate genes control one trait |  
                                                                                            | one gene MASKS the expression of the other gene |  
                                                                                            | the gene that MASKS is epistatic to the gene it masks |  gene interactions
                        
                                                                                    
                                                                                            | pleiotropy | ability of one single gene to affect an organism in several or many ways |  
                                                                                            | ex is autosomal recessive disease cystic fibrosis |  
                                                                                            | characterized by abnormal thickening of mucus that coats certain cells |  
                                                                                            | instead of protecting body, thick mucus builds up in pancreas, lungs, digestive tract |  
                                                                                            | pleiotropic affects: poor absorption of nutrients in the intestine and chronic bronchitis |  multiple alleles
                        
                                                                                    
                                                                                            | most genes in a pop exist in two allelic forms | ex tall or short |  
                                                                                            | multiple alleles is when there are more than two allelic forms of a gene |  
                                                                                            | 4 diff blood groups | A, B, AB, O |  
                                                                                            | are set by specific molecules on surface of red blood cells |  
                                                                                            | 3 alleles that det those (ABO) |  
                                                                                            | A and B are codominant | IA and IB |  
                                                                                            | I stands for immunoglobin |  
                                                                                            | O is recessive | i |  codominance
                        
                                                                                    
                                                                                            | BOTH traits show |  
                                                                                            | ex: MN blood groups in humans |  
                                                                                            | NOT related to ABO blood groups |  
                                                                                            | 3 diff blood groups (M, N, MN) |  
                                                                                            | based in distinct molecules located not he surface of the red blood cell |  
                                                                                            | single gene locus at which two allelic variants are possible |  
                                                                                            | more to it but won't put here |  incomplete dominance
                        
                                                                                    
                                                                                            | BLENDING |  
                                                                                            | neither trait is dominant |  
                                                                                            | genotype is cap letters |  
                                                                                            | ex: red Japanese flower crossed w white one |  
                                                                                            | produces pink offspring |  beyond mendelian inheritance
                        
                                                                                    
                                                                                            | mendelian laws apply to traits set by a single gene for which there are only two alleles |  
                                                                                            | now we can do ones w 2 or more genes |  |  | more exceptions to mendelian inheritance
                        
                                                                                    
                                                                                            | genomic imprinting | variation in phenotype depending on whether a trait is inherited from the mother or the father |  
                                                                                            | occurs in gamete formation |  
                                                                                            | caused by silencing of a particular allele by methylation of DNA |  
                                                                                            | zygote expresses only one allele of the imprinted gene |  
                                                                                            | located on autosomes, not on x chromosome |  
                                                                                            | extranuclear genes | located in mitochondria and chloroplasts |  
                                                                                            | dna in these organelles is small, circular, carries only a small # of genes |  
                                                                                            | linked to several severe and rare inherited diseases in humans |  
                                                                                            | since products of mito. genes involved w energy production |  
                                                                                            | defects (mutations) in these genes cause weakness and deterioration in muscles |  
                                                                                            | mito. dna is inherited only from mother bc fathers mito. do no not enter egg during fertilization |  genes and the environment
                        
                                                                                    
                                                                                            | environment can alter the expression of genes |  
                                                                                            | in fruit flies, vestigial wings can be altered by temp |  
                                                                                            | when raised in hot environment, can grow wings almost as long as normal wild type wings |  
                                                                                            | many human diseases have a multifactorial basis |  
                                                                                            | is an underlying genetic component w a significant environmental influence |  
                                                                                            | ex: heart disease, diabetes, cancer, alcoholism, schizophrenia, and bipolar disorder |  
                                                                                            | also development of intelligence is result of interaction of genetic predisposition and the environment or nurture and nature |  penetrance
                        
                                                                                    
                                                                                            | proportion or percentage of individuals in a group w a given genotype that actually shows the expected phenotype |  
                                                                                            | ex is breast cancer allele who don't get breast cancer (pg 138) |  sex linkage
                        
                                                                                    
                                                                                            | 46 chromosomes |  
                                                                                            | 44 are autosomes |  
                                                                                            | 2 sex chromosomes | X and Y |  
                                                                                            | few genes carried on Y chromosome |  
                                                                                            | Females XX | can inherit two copies of the sex linked genes |  
                                                                                            | can be carrier |  
                                                                                            | Males (XY) | only inherit one X linked gene |  
                                                                                            | recessive sex linked is more common than dominant sex linked |  
                                                                                            | males suffer w sex linked more than females |  
                                                                                            | ex for recessive six linked traits | color blindness, hemophilia, Duchenne muscular dystrophy |  
                                                                                            | all daughters of affected fathers are carriers |  
                                                                                            | sons CANNOT inherit sex linked traits from father bc son inherits Y chromosome from him |  
                                                                                            | son has 50 % chance of inheriting sex linked from carrier mother |  mutations
                        
                                                                                    
                                                                                            | mutations | any changes in the genome |  
                                                                                            | can occur in somatic cells and be responsible for cancer |  
                                                                                            | or during gametogenesis | affect future offspring |  
                                                                                            | radiation and certain chemicals cause mutations | but when and where is random |  
                                                                                            | two types: | gene and chromosomal |  
                                                                                            | gene mutations | caused by change in DNA sequence |  
                                                                                            | some human genetic disorders caused by both types |  
                                                                                            | gene mutations cannot be seen under a microscope |  
                                                                                            | chromosomal can |  
                                                                                            | karyotype show size, number and shape of chromosomes |  
                                                                                            | can reveal presence of certain abnormalities |  
                                                                                            | can be used to scan fro chromosomal abnormalities in developing fetuses |  
                                                                                            | 3 conditions that occur from nondisjunction in formation of ovum or sperm |  
                                                                                            | ADD ACTUAL MUTATIONS ANDDDDDDD LINKAGE MAPPPP |  |