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II. Human Heredity The family of the future
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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 XX X Y XX XY A. Sex Chromosomes vs. Autosomes
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X
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B. Sex Linked Genes 1. Some genes that carry genetic traits/diseases are found on the X chromosome (usually recessive) 2. Females can be Carriers of the recessive allele: ex. Colorblindness Heterozygous for the trait -they don’t have the disorder, but can pass the recessive allele onto offspring
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3. Males have only one X chromosome, so they are more likely than females to have a sex-linked disorder. ex. Hemophilia X H X H = Normal Female X H X h = Carrier (Female) X h X h = Female with Hemophilia X H Y = Normal Male X h Y = Male with Hemophilia ex. Colorblindness X C X C = Normal Female X C X c = Carrier (Female) X c X c = Colorblind Female X C Y = Normal Male X c Y = Colorblind Male
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Red-Green Colorblindness
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X c Y x X C X c XcXc Y XCXC XcXc XCXcXCXc XCYXCY XcXcXcXc XcYXcY 50% chance of having a colorblind child
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X C Y x X c X c XCXC Y XcXc XcXc XCXcXCXc XcYXcY XCXcXCXc XcYXcY 50% chance of having a colorblind child
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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 = Female with trait = Male without trait = Male with trait Horizontal lines = marriages / mating Vertical Lines = offspring
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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). P generation F 1 generation F 2 generation Aa aa ? AA or Aa
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4) Examples: 1. Attached Earlobes (recessive trait): *alleles: A, a aaAa aa Aa ? ? ?? P generation F 1 generation F 2 generation
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4) Examples: 2. Colorblindness (sex-linked trait): *allele: C XX XCYXCY XCXXCX XCYXCYXY XCXXCXXCYXCYXXXY P generation F 1 generation F 2 generation XYXCXXCX Carrier female
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D. Karyotype 1)a picture of an individual’s chromosomes used to analyze them. Check this out.this
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I could go for a twinkie right about now. Nice.
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Blood Groups and Blood Transfusions Blood grouping is due to the presence of certain protein molecules called antigens and antibodies Antigen: Antibody: Located on the surface of red blood cell (RBC) membranes. Types: A antigen and B antigen Located in the blood plasma – bind to antigens that are foreign to the body. Therefore, a person whose blood contains will not produce A antigenA antibody B antibodybut will produce 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 toclogged vessels and agglutinated cells may break, leaking toxic hemoglobin into the body. * This condition may be fatal.
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Blood types include: ABABO Alleles for blood types include:I A, I B, i I A and I B alleles arecodominant The i allele is recessive and therefore, a person must behomozygous (ii) to express this blood type.
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IAIA IBIB IBIB i IAIBIAIB IBIBIBIB IAiIAiIBiIBi Phenotypes: Genotypes: AB, A, B Hybrid AB (codominant) Hybrid A Hybrid B Homozygous B IAIA i IBIB i IAIBIAIB IBiIBi IAiIAiii Phenotypes: Genotypes: AB, A, B, O Hybrid AB (codominant) Hybrid A Hybrid B Homozygous recessive O
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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
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The Rh Factor Rh is another antigen that may be present on the surface of red blood cells. If it is present in a person’s blood, that person is said to be ____________. If it is not present, the person is said to be _____________. Rh positive Rh negative 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: Rh - to Rh + = ______________ Rh + to Rh - = ______________ OK Agglutination Universal Donor: Universal Recipient: O-O- AB + http://nobelprize.org/educational_games/medicine/landsteiner/
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Phenotype (blood type) Genotype Antibodies in plasma Safe Transfusions ToFrom A B AB O I A I A or I A i I B I B or I B i IAIBIAIB ii Anti-B Anti-A None Anti-A Anti-B A, AB B, AB AB A, B, AB, O universal donor A, O B, O A, B, AB, O universal recipient O I do not discriminate! Me neither! You’re a sissy.
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4) Examples: 1. Attached Earlobes (recessive trait): *alleles: A, a P generation F 1 generation F 2 generation
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4) Examples: 2. Colorblindness (sex-linked trait): *allele: C P generation F 1 generation F 2 generation
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Phenotype (blood type) Genotype Antibodies in plasma Safe Transfusions ToFrom A B AB O
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