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Biology--Chapter 14 Human Chromosomes

AB
What is karyotype?a picture of chromosomes during mitosis
Humans have..46 chromosomes
22 pairs or 44 chromosomes are called...autosomal chromosomes or autosomes
1 pair or 2 chromosomes are...sex chromosomes
All egg cells carry....a single X chromosome (23X)
Sperm cells carry...an X chromosome (23X) and others carry a Y chromosome (23Y)
What is a pedigree chart?shows the relationships within a family; shows how a trait is transmitted through three generations of a family
What is a polygenic trait?trait that is controlled by many genes
Heredity and the environment can interact and have...effect of light on the production of chlorophyll, effect of temperature on hair color in Himalayan rabbits; identical twin studies
Blood groups...are genetically determined, and are determined by multiple alleles
What are the ABO blood groups?A, B, AB, O
Rh blood groups can be...positive or negative
What is cystic fibrosis (CF)?common in people with Northern European ancestry; symptoms include serious digestive problems, thick heavy mucous clogs lungs and breathing passageways
What causes cystic fibrosis (CF)?a recessive allele on chromosome 7--the deletion of 3 bases in the middle of a sequence for a protein
What is sickle cell disease?genetic disorder found in African Americans and characterized by bent and twisted shape of red blood cells--causes them to be more rigid and makes it easier for them to get stuck in capillaries
What are symptoms of sickle cell disease?physical weakness, damage to brain, heart, spleen, may be fatal
What causes sickle cell disease?caused by a change in 1 DNA base--the amino acid valine is inserted in place of glutamic acid
What are sex linked genes?trait controlled by sex of the individual and is carried on an X chromosome
Females are XX and have...2 alleles for each sex linked trait--they may express the trait or may be a carrier for a trait
Males are XY and have...1 allele for sex linked traits--recessive alleles will always be expressed
Some sex linked traits include...hemophelia, color blindness, Duchenne Muscular Dystrophy
Nondisjunction is...homologous chromosomes fail to separate--most common error during meiosis, abnormal # of chromosomes may result in gametes
Down's Syndrome is an example of...nondisjunction--there is an extra copy of chromosome 21 (total of 3 copies)
Turner's Syndrome and Klinefelters Syndrome of examples of...sex chromosome disorders
In Turner's Syndrome...female sex organs do not develop at puberty (XO)
In Klinefelter's syndrome...males are unable to reproduce (XXX)
Human DNA analysis includes...testing for alleles and DNA fingerprinting
To test for alleles...labeled DNA probes used to detect specific sequences, changes in restriction enzymes cutting sites and differences in lengths of normal and abnormal alleles.
DNA fingerprinting...analyzes sections of DNA that have little or no known function but vary widely from 1 individual to another; blood, sperm, and hair may be used
The Human Genome Project...attempt to sequence all human DNA,
What is gene therapy?process of changing a gene that causes a genetic disorder
What is a carrier?one of the females X chromosomes contains the recessive sex linked trait


Greenville High School

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