The clone-by-clone technique.
The recombinant DNA approach.
The epigenesis approach.
The whole genome shotgun approach.
Recombinant DNA technology and PCR.
Amniocentesis and chorionic villus sampling.
Screening for sickle cell disease and FISH to identify aneuploidy.
Expressed sequence tags and microarrays.
Yeast causes infections in humans.
Yeast is essential in baking and brewing.
Yeast is the simplest organism to have a nucleus.
the number of yeast genes is a round number - 6,000.
Seeks regions of the genome shared by the members of large families who have the same Mendelian disorder.
scans and then sequences the human genome chromosome by chromosome, in size order.
Determines the sequence of protein-encoding genes on a chromosome.
identifies expressed sequence tags in genes of interest.
identify ESTs and place them in order based on their function to derive the overall sequence.
collect all of the mRNAs of a given cell type, make cDNAs from them, align the cDNAs, and derive the overall sequence.
Break several copies of a genome into 3-base codons, and align them to derive the overall sequence.
. generate a series of fragments from an overall DNA sequence that differ by the end base of each. Overlap the pieces and read off the overhangs to derive the sequence.
H. Winkler in 1920.
Francis Crick in 1962.
Francis Collins in 1992.
J. Craig Venter in 1990.
Half a century.
Since completion of the human genome project in 2000.
Mutations that do not alter phenotype.
Mutations that do not alter genotype.
Which tissues express a gene.
How many genes a person has.
How the four nitrogenous bases encode information.
How people vary.
the effects of exposure to low-level radiation on the genetics of populations.
how inherited diseases are related to non-inherited diseases, such as infections, degenerative diseases, and autoimmune diseases.
Agriculture as it relates to cattle breeds.
inherited susceptibilities to infectious diseases, such as tuberculosis and malaria.
Ethics, the law, and society.
Developing technologies from genetic discoveries.
Copy number variants.
Copy number variants.
The National Institutes of Health
The Department of Energy
the National Institutes of Health and the Department of Energy
The National Institutes of Health, the Department of Energy, and ELSI
the oocyte source.
The uterus source.
The age of the father.
The sperm count.
Regular menstrual cycles
High sperm counts
Being under 30 years of age
He has a sexually transmitted disease.
he has cancer of the spermatogonia, and his sperm will never mature.
He makes too many sperm, and they will crowd and kill each other.
He makes too few sperm, lowering the probability of one sperm successfully reaching and fertilizing an oocyte.
Genetic mother only.
Gestational mother only.
Genetic and gestational mother.
Gestational and surrogate mother.
Pelvic inflammatory disease.
An ectopic pregnancy.
Louise Joy Brown
J. Craig Venter
10,000 - 50,000
100,000 - 500,000
20 to 200 million
Allowing Molly to undergo gene therapy on the affected cells.
Allowing Molly to undergo gene therapy on her germ cells.
Using umbilical cord stem cells from an unrelated donor.
Using umbilical cord stem cells from a younger sibling, who was conceived and selected for this purpose.
Preimplantation genetic diagnosis
Antibodies against his sperm.
A varicose vein in the scrotum.
A malfunctioning prostate.
The test is not expensive.
The test provides information, not a diagnosis.
He test is offered in a state of the U.S. not covered by these regulations.
the Genetic Information Nondiscrimination Act outlawed CLIA.
Replacing an enzyme that restores the function of T and B cells.
injecting wild type alleles of the RPE64 gene into affected cells of the retina.
Injecting wild type alleles of the dystrophin gene into affected muscle cells.
Inhaling viruses that have been modified to carry the wild type CFTR gene
in 1986, when the human genome project was first suggested.
In 2001, when the first draft of the human genome was published.
In 1947, to help physicians explain inherited diseases to their patients.
In 1953, when Watson and Crick discovered the structure of DNA.
Be viewed as immunologically foreign and destroyed.
Be accepted and secrete the inserted gene's protein product.
Turn on the abnormal gene in surrounding cells.
Be accepted, but not express the introduced gene.
Restores proper folding to a misfolded protein.
Restores the double helix to opened-up DNA.
Restores the sugar-phosphate background to the DNA of a specific gene.
Provides a drug that accompanies a specific mutation, correcting it.
Severe combined immune deficiency.
The retrovirus may insert into a proto-oncogene, causing cancer.
a genetically modified retrovirus causes AIDS.
T cannot infect rapidly dividing cells.
It causes ADA accumulation.
it has only one function.
It is large.
It is both an organ and a gland.
only part of it need be corrected.
Enzyme replacement therapy.
Pharmacological chaperone therapy.
Germline gene therapy.
heritable gene therapy.
Constitutional gene therapy
Somatic gene therapy.