Chapter 14 and 15 Flashcards
Autosomal dominant mutations must be present in how many parent(s)?
1 parent
What are two examples of autosomal dominant disorders?
Huntington’s disease and neurofibromatosis
Autosomal recessive mutations have to be present in how many parent(s)?
Both
What are three examples of autosomal recessive disorders?
Cystic fibrosis, sickle cell anemia, and Tay-Sachs disease
In X-linked dominant disorders, the abnormal gene is on which chromosome of how many parent(s)?
X chromosome of 1 parent
What is one example of an X-linked dominant disorder?
Fragile X syndrome
In X-linked recessive disorders, the abnormal gene is on which chromosome and mostly affects which offspring?
X chromosome, male
What are two examples of X-linked recessive disorders?
Hemophilia and red-green color blindness
In Y-linked disorders, the abnormal gene is on which chromosome?
Y chromosome
What is an example of a Y-linked disorder?
Y chromosome infertility
Chromosomal disorders are caused by what?
An extra, deleted, or duplicated chromosomes
What is an example of an extra autosomal chromosome disorder?
Trisomy 21 (Down syndrome) - physical and mental
What is another example of an extra autosomal chromosome disorder?
Trisomy 18 (Edwards syndrome) - very small head
What is another example of an extra autosomal chromosome disorder?
Trisomy 13 (Patau syndrome) - severe intellectual disability
What is an example of an extra sex chromosome disorder?
Klinefelter syndrome - XXY
What is another example of an extra sex chromosome disorder?
“Super Male” syndrome - XYY
What is another example of an extra sex chromosome disorder?
“Superwoman” syndrome - XXX
What is the disorder associated with missing a chromosome or section of one?
Turner syndrome
How many base pairs does even the smallest human chromosome have?
50 million
What type of enzyme is used to cut DNA molecules?
Restriction enzymes
What are the cut segments of DNA called?
Restriction fragments
During gel electrophoresis, what charge does DNA have?
Slightly negative
Which fragments travel further and faster during gel electrophoresis?
Smaller fragments
During the copying stage, what do scientists put into the test tube with the DNA fragments?
DNA polymerase and nitrogen bases
About how many base pairs are there in all of the human genes?
3 billion
Why do scientists want to compare human genes with animal genes?
to help their understanding of the way our bodies work.
Between two people, how many bases in their DNA will be different?
1 base in 1,200
How many genes are in human DNA?
20,000-25,000
What is selective breeding?
Humans select animals to mate
What are the two types of selective breeding?
Inbreeding and hybridization
What are the steps of cloning?
1) Get an egg cell from one cell 2) Take out all the insides of the cell 3) Get a somatic “body” cell 4) Take DNA out of somatic cell 5) Put the embryo (egg) into the womb of surrogate 6) Surrogate mother gives birth to clone.
What is selective breeding?
Method of breeding that allows only those organisms with desired characteristics to produce the next generation
What is hybridization?
Breeding technique that involves crossing dissimilar individuals to bring together the best traits of both organisms
What is inbreeding?
Continued breeding of individuals with similar characteristics to maintain the derived characteristics of a kind of organism
What is biotechnology?
The process of manipulating organisms, cells, or molecules, to produce specific products
What is polymerase chain reaction?
The technique used by biologists to make many copies of a particular gene
What is recombinant DNA?
DNA produced by combining DNA from different sources
What is a plasmid?
Small, circular piece of DNA located in the cytoplasm of many bacteria
What is a genetic marker?
Alleles that produce detectable phenotypic differences useful in genetic analysis
What does transgenic refer to?
An organism that contains genes from other organisms
What is a clone?
Member of a population of genetically identical cells produced from a single cell
What is gene therapy?
Process of changing a gene to treat a medical disease or disorder. An absent or faulty gene is replaced by a normal working gene.
What is a DNA microarray?
Glass slide or silicon chip that carries thousands of different kinds of single-stranded DNA fragments arranged in a grid. A DNA microarray is used to detect and measure the expression of thousands of genes at one time.
What is DNA fingerprinting?
Tool used by biologists that analyzes an individual’s unique collection of DNA restriction fragments; used to determine whether two samples of genetic material are from the same person.
What is forensics?
Scientific study of crime scene evidence
What is a genome?
Entire set of genetic information that an organism carries in its DNA
What is a karyotype?
Micrograph of the complete diploid set of chromosomes grouped together in pairs, arranged in order of decreasing size
What is a sex chromosome?
One of two chromosomes that determines an individual’s sex
What is an autosome?
Chromosome that is not a sex chromosome; also called autosomal chromosome
What is a sex-linked gene?
A gene located on a sex chromosome
What is a pedigree?
Family tree
What is nondisjunction?
Error in meiosis in which the homologous chromosomes fail to separate properly
What is a restriction enzyme?
Enzyme that cuts DNA at a sequence of nucleotides
What is gel electrophoresis?
Procedure used to separate and analyze DNA fragments by placing a mixture of DNA fragments at one end of a porous gel and applying an electrical voltage to the gel
What is bioinformatics?
Application of mathematics and computer science to store, retrieve, and analyze biological data
What is genomics?
Study of whole genomes, including genes and their functions
