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Terms in this set (37)
How many autosomes do humans have?
44 (22 pairs)
What causes cystic fibrosis?
a defective gene which causes production of a thick mucus on the surface of the lungs
what are the symptoms of cystic fibrosis?
-digestive problems (if the mucus spreads to the pancreas)
-growth of nasty bacteria
how do people inherit cystic fibrosis?
autosomal recessive (ff)
What causes sickle cell disease?
the gene mutation that changes a base, making it a different amino acid
what population is at risk for sickle cell disease?
black people and Hispanic people
list 3 problems that can occur with sickle cell disease
1. do not carry O2 efficiently
2. the cells are fragile and can break easily
3. blood vessels can become clogged and reduce blood flow/ damage tissue
how do people inherit sickle cell disease?
autosomal recessive (ss)
What causes PKU (Phenylketonuria)?
missing an enzyme that breaks down phenoalymene (amino acid) so there is a buildup of waste products. This could lead to the brain being negatively affected (intellectual slowness, seizures)
How can PKU be treated?
a diet lacking phenoalymene (low in protein) can treat it. The symptoms will be stopped, but the patient could still pass the mutation on to their children (genotypes do not change)
What is Tay-Sachs?
progressive destruction of the nervous system due to the buildup of fatty protein (waste) in the brain. The patient is missing an enzyme for waste breakdown. Symptoms will change/ get worse until the patient dies of the disease.
what are some symptoms of tay-sachs?
-mental/ physical deterioration
-inability to swallow
what populations are at risk for Tay-Sachs?
Jews and Cajuns (these two culture are very far apart, so they do not have any contact. This means the disease could be a bit different between them)
how do people inherit Tay-Sachs?
autosomal recessive (tt)
two features of Huntington's disease are:
1. autosomal dominant (HH or Hh)
2. symptoms do not show up until later in life (age 30-50)
what are the symptoms of Huntington's disease:
-lack of concentration
-mood swings (aggressive or antisocial behavior)
Why do sex-linked disorders occur more often in males?
because males only have one X chromosome (XY). Females (XX) are affected ONLY if they are homozygous for that trait (if the trait is sex-linked recessive). Females can be carriers for sex-linked traits and they pass the trait on to their sons (they have only one X, so they don't have the female's extra X to protect them from any mutation)
what is the relationship between DNA, chromosomes, and genes?
DNA is the material that is located in the cell's nucleus that makes up the chromosomes and genes
what is the genotype for Turner's syndrome?
what is the genotype for Kleinfelter's syndrome?
Rhett syndrome is sex-linked dominant. If an affected female and a normal male had a child, could their son inherit the disease?
Yes, if he inherited the XR from his mother and a Y from his father. There is a 25% chance of this happening
why are chromosome mutations more serious than gene mutations?
Because they involve more genetic material (the largest chromosome has 1,200 genes)
a chromosome abnormality reflects an abnormality of chromosome ___________ and ______________
number and structure
What is nondisjunction?
nondisjunction occurs when homologous chromosomes fail to seperate during meiosis. This can result in genetic disorders where there are extra/ missing chromosomes
What is monosomy and trisomy?
Monosomy: when there is one chromosome instead of two (Turner's syndrome)
Trisomy: when there are three chromosomes instead of two (Down Syndrome)
how many chromosomes does a male with Klinefelter's have?
3 (his genotype would be XXY)
True or False: women who have kleinfelter's have XXY
False; only males get K because the Y overrides the XX
True or False: Down syndrome is caused by an extra chromosome on the 22nd pair
False; its the 21st
True or False: Nondisjunction can result in either an extra chromosome or a missing chromosome
True or False: Sickle cell disease is carried by the female and appears more often in males
False; Sickle-cell is autosomal recessive, meaning it will NOT be more common in males
True or False: if a person gets one defective Tay-Sachs gene from a parent they will not have the disease
True; Tay-Sachs is auto recessive, so the patient will not get i if they are heterozygous (Tt)
True or False: hemophilia causes the blood to not clot properly
True or False: If one inherits one gene for Huntington's then they have the disease
True; Huntington's is autosomal dominant
True or False: a person who is SS (homozygous dominant) for sickle-cell disease is resistant to malaria
False; people who are heterozygous (Ss) are resistant to malaria
True or False: Cystic fibrosis is caused by the presence of a dominant allele
False; Cystic fibrosis is caused by the presence of two recessive alleles
True or False: Hemophilia is a sex-linked recessive disorder
True or False: Although rare, Huntington's disease is caused by 2 recessive genes
False; 1 dominant gene
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