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II. Human Heredity The family of the future A. Sex Chromosomes vs. Autosomes 1) Sex Chromosomes: determine a person’s gender. *Female = XX *Male = XY 2) Autosomes: All 44 other chromosomes (not sex chromosomes). 3) During reproduction, there is a 50/50 chance of getting a boy or girl. a) A gamete carries 22 autosomes and one sex chromosome. * Egg cells carry only X chromosomes * Sperm may carry either X or Y chromosomes X X X XX XX Y XY XY XX B. Sex Linked Genes 1. Some genes that carry genetic traits/diseases are found on the X chromosome (usually recessive) ex. Colorblindness 2. Females can be Carriers of the recessive allele: Heterozygous for the trait -they don’t have the disorder, but can pass the recessive allele onto offspring 3. Males have only one X chromosome, so they are more likely than females to have a sex-linked disorder. ex. Hemophilia XHXH = Normal Female XHY = Normal Male XHXh XhY = Male with Hemophilia = Carrier (Female) XhXh = Female with Hemophilia ex. Colorblindness XCXC = Normal Female XCY = Normal Male XCXc = Carrier (Female) XcY = Colorblind Male XcXc = Colorblind Female Red-Green Colorblindness XcY x XCXc Xc Y XC XC Xc XC Y Xc Xc Xc Xc Y 50% chance of having a colorblind child XCY x XcXc XC Y Xc XC Xc Xc Y Xc XC Xc Xc Y 50% chance of having a colorblind child C. Pedigree Charts 1) Shows the phenotypes of a specific trait for family members over several generations (genotypes may also be determined). 2) Used to generate a family genetic history that may be used to predict the occurrences of certain traits (usually disorders). 3) Key: = Female without trait Horizontal lines = marriages / mating = Female with trait = Male without trait = Male with trait Vertical Lines = offspring F2 generation F1 generation P generation Fill in the genotypes of each individual in the pedigree below. The chart shows the frequency of widows peak, a dominant trait (allele: A, a). Aa ? aa aa Aa aa aa Aa Aa AA or Aa Aa Aa aa 4) Examples: F2 generation F1 generation P generation 1. Attached Earlobes (recessive trait): *alleles: A, a aa ? Aa aa Aa Aa aa Aa Aa Aa aa Aa ? ? ? 4) Examples: 2. Colorblindness (sex-linked trait): *allele: C F2 generation F1 generation P generation Carrier female XY XCX XY XY XCY XX XX XCX XCY XY XCY XCX XX XY XY D. Karyotype 1) a picture of an individual’s chromosomes used to analyze them. Check this out. I could go for a twinkie right about now. Nice. Blood Groups and Blood Transfusions •Blood grouping is due to the presence of certain protein molecules called antigens and antibodies Antigen: Located on the surface of red blood cell (RBC) membranes. Types: A antigen and B antigen Antibody: Located in the blood plasma – bind to antigens that are foreign to the body. •Therefore, a person whose blood contains A antigen will not produce A antibody but will produce B antibody Agglutination: Occurs when antibodies bind to antigens causing cells to clump together. * This is done so that white blood cells may engulf and destroy multiple foreign cells at once. * This may lead to clogged vessels and agglutinated cells may break, leaking toxic hemoglobin into the body. * This condition may be fatal. Blood types include: A B AB O Alleles for blood types include: IA , IB , i • IA and IB alleles are codominant • The i allele is recessive and therefore, a person must be homozygous (ii) to express this blood type. IA IB i IB i IAIB IB IBIB IAi I Bi IA i IAIB IAi IBi ii Phenotypes: AB, A, B Genotypes: Hybrid AB (codominant) Hybrid A Hybrid B Homozygous B Phenotypes: AB, A, B, O Genotypes: Hybrid AB (codominant) Hybrid A Hybrid B Homozygous recessive O Who’s Baby Is It??? A baby’s ID tag was lost! Two sets of parents claim the baby. Baby: type O The Smiths Mr. Smith: type AB Mrs. Smith: type O The Jones’ Mr. Jones: type A Mrs. Jones: type B The Rh Factor •Rh is another antigen that may be present on the surface of red blood cells. Rh positive If it is present in a person’s blood, that person is said to be ____________. Rh negative If it is not present, the person is said to be _____________. •Rh antibodies do not occur naturally in the plasma of a person with Rh- blood. However, the antibodies may be produced if introduced to the Rh antigen through transfusion. •Transfusions: OK Rh- to Rh+ = ______________ Agglutination Rh+ to Rh- = ______________ •Universal Donor: O•Universal Recipient: AB+ http://nobelprize.org/educational_games/medicine/landsteiner/ Phenotype (blood type) Genotype Antibodies in plasma Anti-B You’re a sissy. I do not discriminate! A IAIA or IAi Safe Transfusions To From A, AB A, O B, AB B, O Me neither! B IBIB or IBi AB IAIB None AB A, B, AB, O ii Anti-A Anti-B O Anti-A universal donor A, B, AB, O universal recipient O 4) Examples: F2 generation F1 generation P generation 1. Attached Earlobes (recessive trait): *alleles: A, a 4) Examples: F2 generation F1 generation P generation 2. Colorblindness (sex-linked trait): *allele: C Phenotype (blood type) A B AB O Genotype Antibodies in plasma Safe Transfusions To From