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Genetic Disorders Review
What is the disorder? Chromosome 11 Inability to manufacture melaninOften shifting back and forth of eyes ANSWER: ALBINISM
What is the disorder? Polygenic More common among AsiansOpening in lip and roof of mouth ANSWER: cleft lip/cleft palate
What is the disorder? Sex-linked trait Lack AHF factor“bleeder’s disease: ANSWER: hemophilia
What is the disorder? Chromosome #4Too many copies of CAG – causes atrophy of the brain Does not manifest itself until 20’s-30’s ANSWER: Huntington’s
What is the disorder? On X-chromosome Weakening of musclesCalf muscles enlarge first, usually in young boys ANSWER: Duchenne Muscular Dystrophy
What is the disorder? Chromosome #15Accumulation of fat on the brain leads to degeneration of the nervous system Highest in Eastern European Jews ANSWER: Tay Sachs
What is the disorder? Nondisjunction XXYSterile, small testes, breast enlargement in males ANSWER: Klinefelters
What is the disorder? Nondisjunction Trisomy 21Mental retardation, round face, extra fold on eyes, sluggish muscles ANSWER: Down Syndrome
What is the disorder? Chromosome #12Breakdown of products of phenylalanine Mental retardation if diet does not omit phenylalanine ANSWER: PKU
What is the disorder? Red blood cells collapseCarriers are somewhat resistant to malaria Found mostly in African-Americans and people of Mediterranean ANSWER: sickle-cell anemia
What is the disorder? Nondisjunction Female XO, sterileWeb between neck and shoulders ANSWER: Turner Syndrome
What is the disorder? Sex-linked trait XcY would be affected maleInability to detect certain colors ANSWER: color blindness
What is the disorder? Dominant chromosome #4Short stature, trident hand, prominent forehead Dwarfism Aa ANSWER: Achrondroplasia
What is the disorder? Dementia Memory loss, confusedPlaque on the brain ANSWER: Alzheimers
What is the disorder? Long limbs, enlarged aorta Spidery fingersAbe Lincoln had it ANSWER: Marfans
What is the disorder? Polygenic traitShunt in brain to drain off fluid Opening of the vertebral column ANSWER: Spina bifida
What is the disorder? Chromosome #7-salty skin in symptomLack enzyme to break down mucous in respiratory and digestive tract Treatment with pounding chest ANSWER: Cystic Fibrosis
What is this diagram called?Pedigree Punnett square C.Kayrotype
What is this diagram called?Punnett square Pedigree C.Kayrotype ANSWER: C
What is this diagram called?Punnett square B. Pedigree C. Karyotype
What is this diagram called?Punnett square B. Pedigree C. Karyotype ANSWER: B
What disorder is this? TURNERS KLINEFELTERS DOWNS METAFEMALE
What disorder is this? TURNERS KLINEFELTERS DOWNS METAFEMALEANSWER: XXY Klinefelters
What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALED. DOWNS
What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALED. DOWNS ANSWER: D
What are the chances of…two Achrondroplasia parents having a normal sized child? HINT: AA = dead Aa = achondroplasia aa = normal ANSWER: 25%
What are the chances… Of a father with hemophilia and a wife of no hemophilia gene having a child with hemophilia? Could any children be carriers? ANSWER: 0% children; girls are carriers
What disorder is this? A. TURNERS B. KLINEFELTERS C. METAFEMALED. DOWNS ANSWER: A
Which disorders ARE NOT caused by nondisjunction?Klinefelters Turners Cystic Fibrosis Trisomy 21 Hemophilia ANSWERS: Cystic Fibrosis Hemophilia
What is the genotypic ratio of the offspring of parents AO and BO?
What is the genotypic ratio of the offspring of parents AO and BO?AB BO AO OO B O What is the phenotypic ratio?
What is the genotypic ratio of the offspring of parents AO and BO?AB BO AO OO B O What is the phenotypic ratio? 25% each blood types A, B, AB, O
What type of blood can each of these blood types RECEIVE?AB+ B- O+, A+ Only O+ Only O- All + O-, B-
In which phase of mitosisAre the chromosomes stopped to make a karyotype? A. prophase B. telophase C. metaphase D. anaphase ANSWER: METAPHASE
How are the chromosomes arrangedIn a karyotype? A. smallest to largest B. largest to smallest C. by color D. by shape ANSWER: B
Who is the oldest child in generation III?
Who is the oldest child in generation III?#1
If red hair is recessive and is shaded in, how many boys and how many girls have red hair?
If red hair is recessive and is shaded in, how many boys and how many girls have red hair?2 boys + 2 girls
Is this person a male or female?
Is this person a male or female?
Is this person male or female?
Is this person male or female?Normal Or what Disorder?
Is this person male or female?Klinefelters
Is this a male or female?
Is this a male or female? Female- Normal or a disorder?
Is this a male or female? Female- TURNERS SYNDROME
This is a sex-linked traitThis is a sex-linked trait. Why is there no trait (shaded) in Generation II, but can be in III?
Just carriers in Generation II.
Which is NOT a sex-linked trait?Klinefelters Color-Blindness Hemophilia Duchenne Muscular Dystrophy ANSWER: Klinefelters
Which is NOT genetic disorder?Color Blindness AIDS Marfans Tay Sachs ANSWER: AIDS
Make a Punnett Square for two parents AS for sickle-cell anemia.
Make a Punnett Square for two parents AS for sickle-cell anemia.
Make a Punnett Square for two parents AS for sickle-cell anemia.AA (normal RBC) AS (resistant to malaria) SS (sickle-cell disease) A S
Human Genetics Review – What is a GENE? A gene is the unit that controls traits Genes are passed from parents to offspring Genes are located on our chromosomes.
Genetic Diseases & Disorders Biology Genetics Diseases outline Dominant 1. Huntington’s Recessive 1. Cystic fibrosis 2. Sickle-cell anemia 3. Tay-Sachs.
Simple Inheritance, Pedigrees, & Karyotypes Pedigrees Similar to family trees graphicA graphic representation of genetic inheritance.
Other Types of Inheritance Epistasis – one gene affects the expression of another gene – Example: albinism – gene for color and a gene for how MUCH color.
Human Inheritance. Review – What is Heredity? Heredity is the passing of traits from parents to offspring Genes are passed from parents to offspring (**Remember.
Human Heredity. Do Now Read the statements below. Determine if they are true or false. Record answer. Read the statements below. Determine if they are.
Chapter 14 Human Chromosomes Karyotype: a picture of the chromosomes from a single cell. Used to determine the sex, or possible genetic disorders of.
Ch.11 – Complex Inheritance & Human Heredity 11.2 – Complex Patterns of Inheritance Sometimes inheritance does not follow Mendel’s rules (Non-Mendelian.
1. Somatic cells in humans have __________ chromosomes. A. 23 B. 46 C
Chapter 12 Patterns of Heredity & Human Inheritance.
Autosomal Recessive Conditions 2. Phenylketonuria (PKU) lack an enzyme to process phenylalanine amino acid build up of PHE in urine and blood causes mental.
JUST DISORDERS. What disorder is it? Mutation in the blood clotting protein makes person unable to stop bleeding after an injury _______________ Mutation.
Human Genetics EQ: How can genetic patterns be analyzed to determine dominant or recessive inheritance patterns?
Studying humans requires alternative methods. Human geneticists use. Human are – Deduce the genotypes and phenotypes of individuals in.
Chromosomes and Human Inheritance
Chapter 12. Humans have 46 chromosomes 44 are autosomes 22 pairs of homologous chromosomes 2 are sex chromosomes: X and Y Females have two X.
Chapter 14 Human Heredity. Human Chromosomes A picture of chromosomes arranged in this way (previous page) is know as a karyotype. This karyotype is.
The Human Genome Karyotype Mapped out picture of chromosomes arranged in their homologous pairs. 46 chromosomes in human genome 23 pairs on karyotype.
The Human Genome. Human Chromosomes Karyotype- diagram showing the complete set of chromosomes.Karyotype- diagram showing the complete set of chromosomes.
Autosome - any chromosome other than the X & Y Sex chromosomes – 23rd pair of determine sex in organism.
Human Heredity Chapter 14-1, 14-2, 14-3.
Pedigrees, karyotypes, and genetic disorders
Down Syndrome Have 3 copies of chromosome # 21 (trisomy) Nondisjunction genetic disorder Symptoms include cognitive delays, eyes that slant upward and.
Human Genetics Chapter 14 in the Textbook.
Inheritance and Human Genetics
Chapter 14 Human Genetics Human Chromosomes Genome = the full set of genetic information that an organism carries in its DNA Karyotype = the complete.
What’s a “mutagen”? What does a mutation do to DNA? If a mutation affects a gene, then what might happen to the protein sequence?
Patterns of Heredity and Human Genetics
Wake-up 1.A woman carrying hemophilia marries a man who is a hemophiliac. What percentage of their children will have hemophilia? 1.Cross a man heterozygous.
End Show Slide 1 of 43 Copyright Pearson Prentice Hall 14–1 Human Heredity 14-1 Human Heredity.
Human Inheritance Chapter 14 sec. 1 and 2. Pedigree Analysis Pedigree = a family record that shows how a trait is inherited over several generations.
Human Genes & Chromosomes. Human Genetic Disorders Nondisjunction is a cause of some human genetic disorders –In nondisjunction, the members of a chromosome.
Human Heredity Humans have 46 chromosomes –22 pairs of Autosomes (body cells) –1 pair of Sex chromosomes (XX or XY) Chromosomes can be cut up and arranged.
Chromosomal Disorders. Non-disjunction During meiosis, chromosomes are supposed to be divided evenly and into gametes. During meiosis, chromosomes are.
Diseases and karyotypes
Chapter 11, Complex Genetic Patterns
Human Genome. Karyotype – a picture of a cell’s chromosomes group in homologous pairs Humans have 46 chromosomes Two of these are sex chromosomes (XX.
-Sex (gender) Determination Dr. Thomas Hunt Morgan ( ) -worked with fruit flies (Drosophila melanogaster) -pioneer in the use of fruit flies to.
Human Genetics Chapter 14-1, 14-2 Human Heredity.
Thursday 2/2 How many copies of the chromosome for skin color do you have? Why do you have that many? What is similar and what is different about the.
IV. Human Heredity & Sex-linked Disorders A. Human Chromosomes -Humans have 46 chromosomes in their cells. -Cell biologists analyze chromosomes using karyotypes.
Human Genetic Disorders Every cell in the human body has 46 chromosomes except for gametes, egg sperm cells, which contain 23 or the haploid number. Human.
What determines are phenotypes? Autosomes- chromosomes 1-44, pairs 1-22 Sex chromosomes- 23 rd pair of chromosomes – Females have two copies of a large.
Complex Inheritance and Human Heredity Chapter 11.
Chapter 14 The Human Genome.
UNIT 9 – THE HUMAN GENOME Test Tuesday (chapter 14)
Making a Pedigree Pedigree – a graphic representation of genetic inheritance Geneticists often need to map the inheritance of genetic traits from generation.
Human Genetics and the Pedigree. Section Objectives Understand how different mutations occur. Be able to identify different diseases and disorders.
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