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Human Genetics


Define sex-linked traits Gene on one of the sex chromosomes
Define sex-influenced trait Gene on an autosome but affected by hormone levels (because of gender)
Define sex-limited trait
Give an example of a sex-linked trait Color Blindness, Hemophilia, Male Pattern Baldness
Give an example of a sex-influenced trait Beard, Baldness
Give an example of a sex-limited trait
Explain why sex-linked traits affect males more often then females Sex-linked traits affect males more because males only need one gene to give them the trait
What is a karyotype? A organized chart of chromosomes
How do we use a karyotype to determine chromosomal disorders? Look for extra or missing chromosomes
What is a trisomy? When there is 3 chromosomes not 2
What disorders are trisomy disorders? Patau's Syndrome, Trisomy X, Down Syndrome, Edwards Syndrome, Klinefelter's Syndrome
What is a monosomy? When there is only 1 chromosome not 2
What disorders are monosomy disorders? Turner's Syndrome
What is a carrier? A women that is heterozygous for a trait. She can pass the trait on to her children but she does not have the trait
Use the concepts of antigens and antibodies to explain how blood type works. An antigen is on the blood cell it tells your blood type. Antibodies are a part of the bodies defence system
What are the four methods for testing a fetus during pregnancy Chorionic Villi Sampling, Ultrasound, Amniocentesis, Fetoscopy
What is a gene pool? All available alleles in the population
What is the difference between a multi-allele trait and a polygenic trait? Multi-alleles- one gene that has more than two alleles Polygenic traits- multiple genes for one chromosome
Give an example of a multi-allele trait Blood Type
Give an example of a polygenic trait Skin Color, Eye Color, Height, IQ
Know the genetic disorder: Turner Syndrome Woman has one X chromosome
Know the genetic disorder: Down Syndrome Extra 21st chromosome
Know the genetic disorder: Klinefelter Syndrome Man has an extra X chromosome
What is nondisjunction? The failure of chromosomes to separate
What is the major cause of nondisjunction? Age
Is nondisjunction more serious during meiosis I or meiosis II? Explain Meiosis I because all 4 gametes will be affected whereas in meiosis II only 2 will be affected
What ways do we use to study human genetics? Pedigree Twin Studies Population Sampling
What are the limitations to studying human genetics? Long-life Span Non-Random Mating Morals (Testing) Time Between Generations Number of Offspring
What are the laws for Hardy-Weinberg to hold true? Stable Population Large Population Random Mating No Mutations No Migrations
Understand how to read/analyze a pedigree
Know the different blood types A, B, AB, O (A++, A+-, A--, B++, B+-, B--, AB++, AB+-, AB--, O++, O+-, O--)
What is the Rh factor? Determines whether you have + or - blood
What is the Rho-gam, and under what conditions would a pregnant women need this? Rho-gam= Stops Antigens A pregnant woman needs this when she had - blood and her child is + this stops a pregnant woman's blood from fighting off and killing the child (This only matters after 1st child)
What is the recessive blood type? O- Blood
Is positive or negative blood recessive? Negative Blood
Can positive blood except negative blood? Yes
Can type O blood accept type A blood? No
Know the genetic disorder: Tay-Sachs Disease an inherited metabolic disorder in which certain lipids accumulate in the brain, causing spasticity and death in childhood.
Know the genetic disorder: Huntington's Disease a hereditary disease marked by degeneration of the brain cells and causing chorea and progressive dementia.
Know the genetic disorder: PKU Disease an inherited inability to metabolize phenylalanine that causes brain and nerve damage if untreated.
Know the definition of amniocentesis A process in which doctors examine the amniotic fluid of a fetus to test for genetic disorders
Know the definition of a karyotype A picture of chromosome pairs organized by size, used to identify abnormalities in chromosomes
Know the definition of a monosomy When a person has 45 chromosomes instead of 46; one chromosome is missing
Know the definition of a sex-linked trait When genes for a trait are located on a sex chromosome
Know the definition of multiple alleles Three or more forms of a gene affect one trait
Know the definition of population sampling A study of traits present in a small, randomly selected group of people results are projected to an entire population
Know the definition of a sex-influenced trait A trait that is not found on sex chromosomes but is associated with a single sex
Know the definition of ultrasound testing This technique uses sound waves to detect possible abnormalities in a fetus
Know the definition of genetic counseling People who want to have children go through this process to find out their chances of passing on harmful genetic traits to their offspring
Know the definition of klinefelter's syndrome A genetic disorder in which a male has an extra X chromosome
Know the definition of a carrier An individual who possesses a recessive allele but does not express it
Know the definition of cystic fibrosis A recessive genetic disease that causes abnormal secretions in the body, resulting in weight loss and lung infection
Know the definition of down syndrome A genetic disorder in which an individual has an extra chromosome 21
Know the definition of sickle-cell disease A recessive genetic disorder that results in moon or sickle shaped cells, which eventually destroy vital organs in the body
Know the definition of trisomy A chromosomal disorder in which an individual has an extra chromosome
Know the definition of color blindness Inability to distinguish color, produced by a recessive, sex linked allele of the color gene
Know the definition of twin studies This type of study helps scientists determine how heredity and environment influence human traits
Know the definition of turner's syndrome A genetic disorder in which an individual inherits one X chromosome and no others
Know the definition of polydactyly A genetic condition of having extra fingers or toes.
Know the definition of chorionic villi sampling A method of detecting genetic disorders in fetuses; involves the examination of a tissue sample from the fetal membrane
Know the definition of hemophilia A sex-linked, recessive hereditary disorder that affects normal blood clotting
Know the definition of a polygenic trait A trait that is determined by several genes
Know the definition of nondisjunction Failure of a chromosome pair to separate during cell division
Describe Chorionic Villi Sampling Use ultrasound to insert hollow tube into the womb, tiny protrusions from the membrane called chorion surrounds the fetus
Describe Fetoscopy Insert a needle with a microscope attached to physically view the fetus
Describe Ultrasound Send high frequency sound waves through mother's abdomen, & sound waves bounce off the fetus to produce a sonogram
Describe Amniocentesis Using a long needle to withdraw fluid surrounding the fetus
If the frequency of two alleles in a gene pool is 90% A and 10% a, what is the frequency of individuals in the population with the genotype Aa? 0.18 (The question tells you that p = 0.9 and q = 0.1. From this, you can calculate the heterozygotes: 2pq = 2 (0.9) (0.1) = 0.18.)
In a population that is in Hardy-Weinberg equilibrium, the frequency of the homozygous recessive genotype is 0.09. What is the frequency of individuals that are homozygous for the dominant allele? q2 = 0.09, so q = 0.3. p = 1 − q, so p = 1 − 0.3 = 0.7 AA = q2 = 0.49
A population of rabbits may be brown or white. Brown rabbits have the genotype BB or Bb. White rabbits have the genotype bb. The frequency of the BB genotype is .35. What is the frequency of heterozygous rabbits? the B allele? the b allele? Heterozygous= 0.484 The B allele= 0.59 The b allele= 0.41
The ability to taste PTC is dominant. You sampled 215 individuals in a biology class, and determined that 150 could detect the bitter taste of PTC and 65 could not. What is the predicted frequency of the recessive allele (t)? the dominant allele (T)? recessive allele= 0.55 dominant allele= 0.45
The ability to taste PTC is dominant. You sampled 215 individuals in a biology class, and determined that 150 could detect the bitter taste of PTC and 65 could not. In a population of 10,000 people, how many would be heterozygous? Homozygous dom.? rec.? TT = .203 / Tt = .495 / tt = .302
Created by: Elise.Postma