Sally Doe has 88% right now in Q1 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?

Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance 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.

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

Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance 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.

Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance 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

Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance 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.

Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance Galactosemia Recessive genetic disorder characterized by the inability of the body to digest galactose.

Dominant Genetic Disorders Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance 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. A dominant trait is expressed when the individual is homozygous dominant or heterozygous.

Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance 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 45-50 when neural degeneration starts causing mental deterioration and lack of ability to move body 100% fatal

2 people w/ achondroplasia can have normal height children Chapter 11 Complex Inheritance and Human Heredity 11.1 Basic Patterns of Human Inheritance 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

Chapter 11 Complex Inheritance and Human Heredity

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

Pedigree symbols

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

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

Both alleles are expressed in the heterozygous condition. Chapter 11 Complex Inheritance and Human Heredity 11.2 Complex Patterns of Inheritance Codominance Both alleles are expressed in the heterozygous condition.

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: IA IB i A (IA) and B (IB) are codominant to each other O (i) is recessive to both A and B

3 alleles present in the gene pool (A, B, O) 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

Sex linked inheritance 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 chromosomes determine an individual’s gender. Chapter 11 Complex Inheritance and Human Heredity 11.2 Complex Patterns of Inheritance Sex Determination Sex chromosomes determine an individual’s gender.

SRY gene on Y chromosome only 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.

Lots of genes are on the X chromosome, not only the “girl” stuff, but stuff all humans need to survive 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)

Sex linked recessive disorders: -red green color blindness -hemophilia -Duchenne muscular dystrophy 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.

Chapter 11 Complex Inheritance and Human Heredity 11.2 Complex Patterns of Inheritance Polygenic Traits Polygenic traits arise from the interaction of multiple pairs of genes.

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)

Images of chromosomes stained during metaphase Chapter 11 Complex Inheritance and Human Heredity 11.3 Chromosomes and Human Heredity Karyotype Studies Karyotype—micrograph in which the pairs of homologous chromosomes are arranged in decreasing size. Images of chromosomes stained during metaphase Chromosomes are arranged in decreasing size to produce a micrograph.

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

Non disjunction in 2nd meiosis division Non disjunction in 1st meiosis division

Chapter 11 Complex Inheritance and Human Heredity

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.

Telomeres 11.3 Chromosomes and Human Heredity Chapter 11 Complex Inheritance and Human Heredity 11.3 Chromosomes and Human Heredity Telomeres 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.

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

Chapter Resource Menu Chapter Diagnostic Questions 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.

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

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

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

Which of Dr. Garrod’s observations about Chapter 11 Complex Inheritance and Human Heredity 11.1 Formative Questions Which of Dr. Garrod’s observations about alkaptonuria was most critical to his determination that it is a genetic disorder? It appears at birth and runs in families. It is linked to an enzyme deficiency. It continues throughout a patient’s life, affecting bones and joints. It is caused by acid excretion and results in black urine.

Which is the genotype of a person who is Chapter 11 Complex Inheritance and Human Heredity 11.1 Formative Questions Which is the genotype of a person who is a carrier for a recessive genetic disorder? DD Dd dd dE

Albinism is a recessive condition. If an albino Chapter 11 Complex Inheritance and Human Heredity 11.1 Formative Questions 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? at least one parent is a carrier both parents are carriers both parents are homozygous recessive at least one parent is homozygous dominant

When a homozygous male animal with black Chapter 11 Complex Inheritance and Human Heredity 11.2 Formative Questions 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? dosage compensation incomplete dominance multiple alleles sex-linked

Of the 23 pairs of chromosomes in human Chapter 11 Complex Inheritance and Human Heredity 11.2 Formative Questions Of the 23 pairs of chromosomes in human cells, one pair is the _______. autosomes Barr bodies monosomes sex chromosomes

Which is an example of a polygenic trait? Chapter 11 Complex Inheritance and Human Heredity 11.2 Formative Questions Which is an example of a polygenic trait? blood type color blindness hemophilia skin color

What does a karyotype show? Chapter 11 Complex Inheritance and Human Heredity 11.3 Formative Questions What does a karyotype show? The blood type of an individual. The locations of genes on a chromosome. The cell’s chromosomes arranged in order. The phenotype of individuals in a pedigree.

What is occurring in this diagram? Chapter 11 Complex Inheritance and Human Heredity 11.3 Formative Questions What is occurring in this diagram? multiple alleles nondisjunction nonsynapsis trisomy

What condition occurs when a person’s cells Chapter 11 Complex Inheritance and Human Heredity 11.3 Formative Questions What condition occurs when a person’s cells have an extra copy of chromosome 21? Down syndrome Klinefelter’s syndrome Tay-Sachs syndrome Turner’s syndrome

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

Which is not an allele in the ABO blood group? IA IO IB i Chapter 11 Complex Inheritance and Human Heredity Chapter Assessment Questions Which is not an allele in the ABO blood group? IA IO IB i

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

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

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

Shorthorn cattle have an allele for both red and Chapter 11 Complex Inheritance and Human Heredity Standardized Test Practice 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? codominance dosage compensation epistasis sex-linked

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

A carrier of hemophilia and her husband, who Chapter 11 Complex Inheritance and Human Heredity Standardized Test Practice 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? 25% 50% 75% 100%

Glencoe Biology Transparencies Chapter 11 Complex Inheritance and Human Heredity Glencoe Biology Transparencies

Chapter 11 Complex Inheritance and Human Heredity Image Bank

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

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

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

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