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Definition
| the use of alteration of cells or biological molecules for specific applications. EX: Wine and Bread making (Yeast fermentation) |
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Definition
| Type of biotechnology that manipulates the genetic material in cells. |
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| Recombinant DNA Technology |
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Definition
Combining the genetic material of different species
*Usually inserting one or more strands of DNA from one species into another to suppress or enhance its own genes |
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Definition
| Recognizes a specific short nucleotide sequence. |
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| Using Recombinant DNA Technology |
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Definition
*Manufacturing of products
*Example: Indigo -blue dye, Originally came from plants and mollusks. Genetically engineered bacteria (E. coli) now can make indigo |
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Definition
| -genetically modified organisms. Plant and animal breeding EX: Round up ready corn - altered to be Round up resistant |
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Definition
Improved nutritional and health benefits
Added vitamins and less fat
Example: rice with added Vitamin A and iron
Reduced use of fertilizers, pesticides, and energy |
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| Rice with beta-carotene and extra iron |
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Definition
| Effect: added nutritional value |
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| Potential Risk of GM Crops |
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Definition
| Inability to predict long term consequences of introducing GM organisms into the environment |
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| Potential Risk of GM Crops 2 |
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Definition
| Growth of GM Plants outside of intended areas |
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Term
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Definition
creating genes in mice that produce human-like diseases EX: transgenic mice
used in research to study human diseases
Causes
Drug testing
Gene therapy testing
AIDS |
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Definition
– Begun in 1990 *Identify all the genes in human DNA *Determine the sequences of the 3 billion chemical base pairs that make up human DNA *Store this information in databases *Plus others |
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Term
Human Genome Project -Results |
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Definition
*The human genome contains 3.2 billion chemical nucleotide base pairs (A, C, T, and G) *The human genome sequence is almost exactly the same (99.9%) in all people.
*The total number of genes is estimated at 25,000
*About 2% of the genome encodes instructions for the synthesis of proteins.
*Functions are unknown for more than 50% of discovered genes.
*The average gene consists of 3,000 base pairs, but sizes vary greatly, with the largest known human gene being dystrophin at 2.4 million base pairs
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Term
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Definition
Amplifying DNA (making more copies)
Used in forensic and medical tests
Based on natural process of DNA replication
Rapidly replicates a specific DNA sequence millions of times[image] |
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Definition
Restriction Fragment Length Polymorphism DNA Fingerprinting Restriction – uses restriction enzymes to cut out certain segments of DNA
Fragment – short sequence repeats
Length - Compares fragment lengths
Polymorphism – means “many forms” indicating the fragments cut into different sizes
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Definition
| Genetic Basis of Immune Reactions |
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Term
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Definition
Proteins on outside of cell membrane
Identify your cells as being part of you
Your cells are identified as “normal” or “natural” |
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Definition
are identified as possibly harmful
Example: foreign organism inside you |
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Definition
| can identify presence of foreign antigens and destroy it |
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Definition
| proteins produced by certain white blood cells which attach to foreign antigens and immobilize the foreign cells |
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Term
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Definition
Collection of antigens
Controlled by a single gene
Examples: MN blood group , ABO blood group, Rh blood group |
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Definition
Not usually associated with transfusion reactions 2 alleles: LM = M antigen LN = N antigen 3 genotypes: LM LM– only M antigen (Type M) LN LN – only N antigen (Type N) LM LN – both M and N antigens (Type MN) Codominance |
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Term
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Definition
3 alleles:
IA = A antigen
IB = B antigen
i = no antigen
Dominance pattern: (IA = IB) > i
# Genotypes =
n(n+1)/2 = 3(3+1)/2 = ? |
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Term
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Definition
Humans naturally possess antibodies for ABO blood group
Each antibody is specific for a foreign antigen
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Definition
Major Histocompatibility Complex Cluster of genes on the short arm of chromosome 6
First discovered because of its role in tissue rejection following transplantation |
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Definition
"Chromosome 6 contains the 'holy grail' of immunology, the MHC" If this delicate balance is disturbed it can result in autoimmune disease such as type 1 diabetes, rheumatoid arthritis and multiple sclerosis. |
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Term
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Definition
Acquired Immune Deficiency Syndrome Acquired - not inherited
HIV – human immunodeficiency virus
Some people are resistant to HIV - inherited
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Term
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Definition
Involves
Helper T Cells
HIV(virus)
HIV receptors |
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Term
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Definition
Formed in bone marrow
Red blood cells - Carry O2
White blood cells - Macrophage , destroy foreign cells
B cells - Produce antibodies
T Cells (next slide) |
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Term
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Definition
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Term
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Definition
Assist B cells in making antibodies
Without Helper T cells the immune system is greatly compromised |
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Term
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Definition
| Infectious particles made of nucleic acid inside a protein coat |
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Term
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Definition
Human Immunodeficiency Virus Gradually shuts down the immune system
Infects and destroys macrophage (first) and Helper T-Cells (later)
Attaches to cells by binding to two receptor proteins
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Term
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Definition
Immune system backfires
Produces antibodies against body’s own healthy tissues – autoantibodies
Some autoimmune diseases may have a genetic component
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Term
| Hashimoto's Disease (Thyroiditis) |
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Definition
Body's own T-cells attack the cells of the thyroid
Causes hypothyroidism
Weight gain
Hair loss
Fatigue
Infertility
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Term
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Definition
-The majority of people with ankylosing spondylitis have a gene called HLA-B27 Spine curves at 90 degree angle |
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Term
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Definition
Butterfly rash
Inflammation of joints
Kidney problems
Fever
Hair loss
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Term
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Definition
Weakened protective covering (mucosal wall) of digestive tract
Inflamation
Abdominal pain
Diarrhea
Some medications may help (antibiotics and others)
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Term
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Definition
Hyperthyroidism
Thyroid enlargement
Bulging eyes |
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Term
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Definition
Immune system attacks nervous system
Covering of nerves (myelin) is destroyed
Genetic and environmental component
Treatments are expensive and not well tolerated
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Term
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Definition
Red Scaly Patches of skin, Over-production of skin cells
Treatments :Topical medications, UV light
Systemic medications: One third of those affected have family history of psoriasis |
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Term
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Definition
Immune system attacks the joints
Painful and disabling
Allele for low T Cells associated
Other alleles involved in immune system established (HLA-DR4 )
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Term
| Number of Human Chromosomes |
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Definition
Humans have 2N=46 chromosomes – 23 pairs
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Term
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Definition
Two of the 46 play a role in sex determination - X and Y
44 others are termed autosomes – these are the same set in both males and females
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Term
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Definition
1 through 22 are autosomes
X and Y are sex chromosomes 22 pairs of autosomes + 1 pair of sex chromosomes = 23 pairs total - females
44 autosomes
2 sex chromosomes (XX)
= 46 total - Males
44 autosomes
2 sex chromosomes (XY)
46 total
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Term
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Definition
Females Human Female gametes contain only one kind of sex chromosome (X) |
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Term
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Definition
Males Human Male gametes can contain either X or Y sex chromosomes |
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Term
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Definition
| (normally) Determines Sex of Fetus |
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Term
| Anatomy of the Y Chromosome - SRY |
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Definition
| sex-determining region Y gene |
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Term
Gonadal Dysgenesis XY female type (GDXY) Swyer Syndrome |
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Definition
Individual may have XY genotype but female phenotype
associated with point mutations or deletions of the SRY gene but also in some cases with changes in the X chromosome
Occurs in 1/40,000 females |
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Term
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Definition
SRY is functioning
Block in testosterone synthesis (on an autosomal chromosome) Testes usually present (internally)
Female internal structures disappear
No external male structures (penis)
Child appears to be female
At puberty adrenal glands start functioning
Masculinization occurs
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Term
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Definition
having an abnormal number of chromosomes (too many or too few) Monosomy : 2n-1 Trisomy : 2n+1 Double Monosomy : 2n-2 |
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Term
| Sex Chromosomal Aneuploidy |
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Definition
XXX Triple X syndrome (Triplo-X)
Female, 2n+1=47, 2 Barr bodies
1/1000 females
may be fertile and may have normal pregnancy
often tall and thin
may have internal abnormalities
often have reduction in mental abilities compared to siblings, but not mentally retarded
some appear “normal”
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Term
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Definition
Female, 2n-1=45, 0 Barr bodies
99% fetuses die
1/2000 females born
wide-set nipples
slight webbing (extra fold of skin) in the back of the neck
short stature
coarse facial features
slow or little sexual development at puberty
poor development of ovaries - sterile
symptoms can be treated with hormone therapy
only aneuploidy not related to mother’s age |
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Term
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Definition
Male, 2n+1 = 47, 1 Barr body
1/500 males affected
underdeveloped testes sterile
some breast development
sparse facial hair
long arms and legs
sometimes slow to learn
treated with testosterone
some have no symptoms except sterility |
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Term
| XYY Extra-Y Syndrome (Jacob’s Syndrome) |
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Definition
Males, 2n+1 = 47
1/1000 males born
apparently normal
sometimes very tall, acne, and speech and reading problems
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Term
| Can a male have OY? (missing X chromosome) |
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Definition
Too many needed genes are on the X chromosome so “Y” cannot be missing
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Term
| Frequency of all X AND Y abnormalities STAR |
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Definition
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Term
| Cause of Aneuploidy (too few or too many chromosomes - Nondisjunction |
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Definition
Chromosomes fail to separate properly during meiosis I or meiosis II.
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Term
Incidence of Down syndrome related to age of mother:
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Definition
1/2000 among young mothers
1/50 among 45 and older STAR |
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Term
| Sex Chromosomal Aneuploidy – rather common, why? |
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Definition
X chromosome inactivation evens out the sexes!
One X chromosome is inactivated in each female cell
Inactivated X chromosome is called Barr Body |
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Term
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Definition
Discovered by Mary Lyon in 1961
Seen on edge of nucleus Only on females not males. Often uses as sex test |
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Term
| X-Chromosome Inactivation |
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Definition
Normal development in humans requires only one functional X-chromosome
Barr body is the inactivation of one of the X-chromosomes
Males have XY and hence only one X-chromosome
Early in female development one of the X-chromosomes becomes inactivated and when that cell divides-the same X chromosome remains inactivated
Inactivation is random
Thus only one x-chromosome is functional – same as in males
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Term
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Definition
XX female 1
XY male 0
XO female 0
XXX female 2
XXY male 1
XXXY male 2
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Term
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Definition
Cause of Tortoise Shell and Calico Patterns Due to X-chromosome inactivation
Some patches of skin originated from cells having XB (black) + inactivated Xb Barr body
Some have Xb (yellow-orange) + inactivated XB Barr body
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