The Equation Sally Doe has 88% right now in Q1 What does she need to get on the final to guarantee at least a B in the class?

Complex Inheritance and Human Heredity Inferring Genotypes  Knowing physical traits can determine what genes an individual is most likely to have. Predicting Disorders  Record keeping helps scientists use pedigree analysis to study inheritance patterns, determine phenotypes, and ascertain genotypes Basic Patterns of Human Inheritance Chapter 11

Match the disease to its description _____Cystic fibrosis _____Albinism _____Galactosemia _____Tay Sachs _____Huntingtons _____Achondroplasia

11.1 Basic Patterns of Human Inheritance Complex Inheritance and Human Heredity Chapter 11 Recessive Genetic Disorders  A recessive trait is expressed when the individual is homozygous recessive for the trait.

Complex Inheritance and Human Heredity Cystic Fibrosis  Affects the mucus-producing glands, digestive enzymes, and sweat glands  Chloride ions are not absorbed into the cells of a person with cystic fibrosis but are excreted in the sweat.  Without sufficient chloride ions in the cells, a thick mucus is secreted Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Albinism  Caused by altered genes, resulting in the absence of the skin pigment melanin in hair and eyes  White hair  Very pale skin  Pink pupils 11.1 Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Tay-Sachs Disease  Caused by the absence of the enzymes responsible for breaking down fatty acids called gangliosides  Gangliosides accumulate in the brain, inflating brain nerve cells and causing mental deterioration Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Galactosemia  Recessive genetic disorder characterized by the inability of the body to digest galactose Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Dominant Genetic Disorders  Huntington’s disease affects the nervous system.  Achondroplasia is a genetic condition that causes small body size and limbs that are comparatively short Basic Patterns of Human Inheritance Chapter 11  A dominant trait is expressed when the individual is homozygous dominant or heterozygous.

Complex Inheritance and Human Heredity Huntington’s Disease  Caused by the inheritance of a faulty dominant allele of a crucial neural protein (normal version is recessive)  Person is normal until age when neural degeneration starts causing mental deterioration and lack of ability to move body  100% fatal 11.1 Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Achondroplasia  Caused by the inheritance of a faulty dominant allele for bone growth which causes person’s bones to stop growing prematurely  Causes short arms and legs / large relative head size, but no other defects (person is normal otherwise)  2 people w/ achondroplasia can have normal height children 11.1 Basic Patterns of Human Inheritance Chapter 11

Complex Inheritance and Human Heredity Chapter 11

Match each symbol to its meaning in pedigree diagrams: ___ Box ___ Circle ___ Horizontal line ___Vertical line ___Unshaded box or circle ___Shaded box or circle ___Half filled in box or circle ___Strike across box or circle Create a pedigree for this scenario:

Complex Inheritance and Human Heredity Pedigree Analysis  A diagram that traces the inheritance of a particular trait through several generations 11.1 Basic Patterns of Human Inheritance Chapter 11

Pedigree symbols

Chpt11.2 Non-Mendellian genetics: –Incomplete dominance –Co-dominance –Sex linked traits –Polygenic genetics

Define / explain what incomplete dominance is by describing an example

11.2 Complex Patterns of Inheritance Complex Inheritance and Human Heredity Incomplete Dominance  The heterozygous phenotype is an intermediate phenotype between the two homozygous phenotypes. Chapter 11 Genotype+

Incomplete Dominance One allele is active (red color allele) Other allele is defective (white = no color being made) In heterozygote, one functioning allele is not enough to make phenotype completely that trait Similar to normal dominance, but in that case one functioning allele makes enough protein to make heterozygote phenotype look same as homozygous dominant

Define / explain what Codominance is by describing an example:

Complex Inheritance and Human Heredity Codominance  Both alleles are expressed in the heterozygous condition Complex Patterns of Inheritance Chapter 11

Co-Dominance Two alleles, both co-dominant (both will coexist) Ex. Roan Cattle RR alleles = red WW alleles = white RW alleles = red + white hairs on same cow

 Ex Human blood types  3 Alleles: I A I B i  A ( I A ) and B ( I B ) are codominant to each other  O (i) is recessive to both A and B

Draw a sketch of what each red blood cell would look like regarding surface proteins & what antibodies the person has present (if any):

Human blood types 3 alleles present in the gene pool (A, B, O) Each person can have two alleles do there are 4 possible blood types: A, B, AB, O A= AA or AO B= BB or BO AB = AB O= OO

Co-dominance: Blood types

Transfusions When figuring out transfusions, only pay attention to the antibodies in the recipient Ex. Type A person in accident…what blood types ok for them to get? A person has anti B antibodies…so no type B proteins allowed So A person can get: O, A

Non clumpy is good!! Clumpy= dead!! For lab: add blood, add specific antibody…if clumping = that specific protein is present

Explain why Colorblindness is more rare in females

Although the anatomical and physiological differences between women and men are numerous, the chromosomal basis of sex is rather simple. In human and other mammals, there are two varieties of sex chromosomes, X and Y. –An individual who inherits two X chromosomes usually develops as a female. –An individual who inherits an X and a Y chromosome usually develops as a male. Sex linked inheritance

Complex Inheritance and Human Heredity Sex Determination  Sex chromosomes determine an individual’s gender Complex Patterns of Inheritance Chapter 11

In individuals with the SRY gene (sex determining region of the Y chromosome), the generic embryonic gonads are modified into testes. Activity of the SRY gene triggers a cascade of biochemical, physiological, and anatomical features because it regulates many other genes. In addition, other genes on the Y chromosome are necessary for the production of functional sperm. In individuals lacking the SRY gene, the generic embryonic gonads develop into ovaries. SRY gene on Y chromosome only

In addition to their role in determining sex, the X chromosome, has genes for many characters unrelated to sex… (.Hair, eyes, clot formation, muscle development, +others) Lots of genes are on the X chromosome, not only the “girl” stuff, but stuff all humans need to survive

If a sex-linked trait is due to a recessive allele, a female will have this phenotype only if homozygous. (Heterozygous females will be carriers.) Because males have only one X chromosome (hemizygous), any male receiving the recessive allele from his mother will express the trait. The chance of a female inheriting a double dose of the mutant allele is much less than the chance of a male inheriting a single dose. Therefore, males are far more likely to inherit sex-linked recessive disorders than are females. Sex linked recessive disorders: -red green color blindness -hemophilia -Duchenne muscular dystrophy

What does “Polygenic” mean? How do you know if a trait is polygenic?

Complex Inheritance and Human Heredity Polygenic Traits  Polygenic traits arise from the interaction of multiple pairs of genes Complex Patterns of Inheritance Chapter 11

Explain how 2 alleles for skin color can produce a spectrum of human skin tones. Show proposed genotype for lightest skin tone person possible vs. darkest skin tone person possible

Polygeneic Inheritance More than one gene involved with the trait Ex. Hu skin color -3 homologous chromosomes have gene for color on them -2 alleles (dark + light)

What is a karyotype?

 Karyotype—micrograph in which the pairs of homologous chromosomes are arranged in decreasing size Chromosomes and Human Heredity Complex Inheritance and Human Heredity Karyotype Studies  Images of chromosomes stained during metaphase  Chromosomes are arranged in decreasing size to produce a micrograph. Chapter 11

Draw a karyotype of a female organism in which 2n=8 showing trisomy of chromosome 3

Complex Inheritance and Human Heredity Nondisjunction  Cell division during which sister chromatids fail to separate properly  Down syndrome 11.3 Chromosomes and Human Heredity Chapter 11

Explain the cause of Down Syndrome

Trisomies 21: Down Syndrome 18: Edwards Syndrome 13: Patau syndrome

Complex Inheritance and Human Heredity Chapter 11

TestBenefitRiskHow it works Amniocentesis Chorionic villus sampling Ultrasound Explain the benefits and risks associated with each fetal test

 Prenatal diagnosis of genetic and congenital abnormalities.  Invasive techniques.  1. Amniocentesis. Draw amniotic fluid, check cells DNA for genetic problems 2. Chorionic Vilus sampling Take tiss. Sample of placenta and check DNA

 Noninvasive techniques.  Ultrasound imaging.

Complex Inheritance and Human Heredity Telomeres 11.3 Chromosomes and Human Heredity Chapter 11 Telomere: End of a chromosome. In vertebrate cells, each telomere consists of thousands of copies of the same DNA sequence, repeated again and again This region of repetitive DNA at the end of a chromosome protects the chromosome.

Fetal testing Product: Describe: -How each test works (Karyotype, ultrasound, CVS, Amnio) -Benefits of the test -Risks of the test Choices: -”illustrated chart” -Medical advertisements (w/ risks as fine print!) -Debate dialogue of a “Pro” testing person for each vs. a “con” testing person.

Grand Finale of Q1 Bio: Spidey doing Napolean Dynamite dance!!!

Complex Inheritance and Human Heredity Chapter Resource Menu Chapter Diagnostic Questions Formative Test Questions Chapter Assessment Questions Standardized Test Practice biologygmh.com Glencoe Biology Transparencies Image Bank Vocabulary Animation Click on a hyperlink to view the corresponding lesson. Chapter 11

A. albinism B. cystic fibrosis C. galactosemia D. Tay-Sachs Identify the disease characterized by the absence of melanin. Complex Inheritance and Human Heredity Chapter 11 Chapter Diagnostic Questions

A. excessive mucus production B. an enlarged liver C. a cherry-red spot on the back of the eye D. vision problems An individual with Tay-Sachs disease would be identified by which symptom? Complex Inheritance and Human Heredity Chapter 11 Chapter Diagnostic Questions

Under what circumstances will a recessive trait be expressed? Complex Inheritance and Human Heredity Chapter 11 Chapter Diagnostic Questions A. A recessive allele is passed on by both parents. B. One parent passes on the recessive allele. C. The individual is heterozygous for the trait. D. There is a mutation in the dominant gene.

A. It appears at birth and runs in families. Which of Dr. Garrod’s observations about alkaptonuria was most critical to his determination that it is a genetic disorder? Complex Inheritance and Human Heredity Chapter Formative Questions B. It is linked to an enzyme deficiency. C. It continues throughout a patient’s life, affecting bones and joints. D. It is caused by acid excretion and results in black urine.

A. DD B. Dd C. dd D. dE Which is the genotype of a person who is a carrier for a recessive genetic disorder? Complex Inheritance and Human Heredity Chapter Formative Questions

A. at least one parent is a carrier B. both parents are carriers C. both parents are homozygous recessive D. at least one parent is homozygous dominant Albinism is a recessive condition. If an albino squirrel is born to parents that both have normal fur color, what can you conclude about the genotype of the parents? Complex Inheritance and Human Heredity Chapter Formative Questions

A. dosage compensation B. incomplete dominance C. multiple alleles D. sex-linked When a homozygous male animal with black fur is crossed with a homozygous female with white fur, they have offspring with gray fur. What type of inheritance does this represent? Complex Inheritance and Human Heredity Chapter Formative Questions

A. autosomes B. Barr bodies C. monosomes D. sex chromosomes Of the 23 pairs of chromosomes in human cells, one pair is the _______. Complex Inheritance and Human Heredity Chapter Formative Questions

A. blood type B. color blindness C. hemophilia D. skin color Which is an example of a polygenic trait? Complex Inheritance and Human Heredity Chapter Formative Questions

A. The blood type of an individual. B. The locations of genes on a chromosome. C. The cell’s chromosomes arranged in order. D. The phenotype of individuals in a pedigree. What does a karyotype show? Complex Inheritance and Human Heredity Chapter Formative Questions

A. multiple alleles B. nondisjunction C. nonsynapsis D. trisomy What is occurring in this diagram? Complex Inheritance and Human Heredity Chapter Formative Questions

A. Down syndrome B. Klinefelter’s syndrome C. Tay-Sachs syndrome D. Turner’s syndrome What condition occurs when a person’s cells have an extra copy of chromosome 21? Complex Inheritance and Human Heredity Chapter Formative Questions

A. 1 and 2 are siblings B. 1 and 2 are parents C. 1 and 2 are offspring D. 1 and 2 are carriers Use the figure to describe what the top horizontal line between numbers 1 and 2 indicates. Complex Inheritance and Human Heredity Chapter 11 Chapter Assessment Questions

A. I A B. I O C. I B D. i Which is not an allele in the ABO blood group? Complex Inheritance and Human Heredity Chapter 11 Chapter Assessment Questions

A. one less chromosome on pair 12 B. one extra chromosome on pair 21 C. one less chromosome on pair 21 D. one extra chromosome on pair 12 Down Syndrome results from what change in chromosomes? Complex Inheritance and Human Heredity Chapter 11 Chapter Assessment Questions

A. heterozygous B. homozygous dominant C. homozygous recessive If a genetic disorder is caused by a dominant allele, what is the genotype of those who do not have the disorder? Complex Inheritance and Human Heredity Chapter 11 Standardized Test Practice

A. RR B. Rr C. rr Analyze this pedigree showing the inheritance of a dominant genetic disorder. Which would be the genotype of the first generation father? Complex Inheritance and Human Heredity Chapter 11 Standardized Test Practice

A. codominance B. dosage compensation C. epistasis D. sex-linked Shorthorn cattle have an allele for both red and white hair. When a red-haired cow is crossed with a white-haired bull, their calf has both red and white hairs scattered over its body. What type of inheritance does this represent? Complex Inheritance and Human Heredity Chapter 11 Standardized Test Practice

A. Males have only one X chromosome. B. Males have two X chromosomes. C. Males have only one Y chromosome. Why are males affected by recessive sex- linked traits more often than are females? Complex Inheritance and Human Heredity Chapter 11 Standardized Test Practice D. The traits are located on the Y chromosomes.

A. 25% B. 50% C. 75% D. 100% A carrier of hemophilia and her husband, who is unaffected by the condition, are expecting a son. What is the probability that their son will have hemophilia? Complex Inheritance and Human Heredity Chapter 11 Standardized Test Practice

Complex Inheritance and Human Heredity Chapter 11 Glencoe Biology Transparencies

Complex Inheritance and Human Heredity Chapter 11 Image Bank

carrier pedigree Complex Inheritance and Human Heredity Chapter 11 Vocabulary Section 1

incomplete dominance codominance multiple alleles epistasis sex chromosome autosome sex-linked trait polygenic trait Complex Inheritance and Human Heredity Chapter 11 Vocabulary Section 2

karyotype telomere nondisjunction Complex Inheritance and Human Heredity Chapter 11 Vocabulary Section 3

Complex Inheritance and Human Heredity Chapter 11 Animation  Visualizing Nondisjunction Visualizing Nondisjunction