Transcript A`S, AB`S B`S CAN GIVE TO

http://en.wikipedia.org/wiki/Chromosomal_translocation
http://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-theassociated-331
DUPLICATION, INVERSION, DELETION, TRANSLOCATION
Mutations
http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/
• Point mutation-single nitrogen base is
misplaced
• A substitution may be okay
• May not be fatal, since there is
redundancy in the amino acid codons
• Deletion/insertion of a point mutation can
cause a frame shift
• Can code for the wrong amino acid
• Could create an incorrect protein
Nondisjunction
http://www.mhhe.com/biosci/esp/2001_gbio/folder_structure/ge/m3/s3/i
ndex.htm
• Failure to separate chromosomes evenly
during meiosis
• Chromosomal mutations involving whole
or complete pairs of chromosomes
• 3n-triploidy
• 4n-tetraploidy
• Having more then one set of
chromosomes-polyploidy
• Fatal in humans, beneficial in plants
GENES ON SEX CHROMOSOMES
http://www.mhhe.com/biosci/esp/2001_gbio/folder_structur
e/ge/m3/s2/index.htm
• A gene located on a A SEX CHROMOSOME is
called a SEX-LINKED GENE
• MORGAN DISCOVERED the 1ST SEX-LINKED
gene in fruit flies
• He crossed a PUREBRED Dominant REDEYED FEMALE W+W+ with a PUREBRED
recessive WHITE-EYED WW MALE
• Let’s take a look at the 1st cross.
II. SEX-LINKED INHERITANCE
http://learn.genetics.utah.edu/content/begin/traits/predictdisorder/
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A. NON-DISJUNCTION DISORDERS -1 IN 1,000 people are affected by
this with Sex Chromosomes
– Failure of chromosomes to separate evenly during metaphase in
meiosis
B. TURNER SYNDROME
– XO Zygote
– ABSENCE of a 2nd X OR Y. A YO zygote is not viable.
– Person appears to be female
– Sex organs may not be fully developed, STERILE
C. KLEINEFELTER SYNDROME
– XXY, Male in appearance
– Extra fat in chest and hips
– No facial beard
D. SUPERMAN/Jacob Syndrome
– XYY, SLOW MENTAL ABILITY
– AGGRESSIVE BEHAVIOR
– 10% of male prison population
E. SUPERWOMAN
– XXX, LEARNING DISORDERS
– Above average height
JOSEPH KOLREUTER
• 1760-Crossed white rr x red
RR carnations
• He got…Rr which were
pink!
• Phenotype was in between
the parents
• He crossed the Rr hybrid F1 and got red, white and
pink combos
• This shows that R is
incompletely dominant over
the r gene
• r does not code for a protein
but R can not compensate
for this so an intermediate
hybrid is created
INCOMPLETE DOMINANCE
• A PHENOTYPE
THAT IS INTERMEDIATE OF
EITHER GENE
CODOMINANCE
Two genes are expressed equally
• ONE gene is not
DOMINANT over the
other gene
• Two dominant genes
Are expressed
• How does this
happen?
I.
BLOOD GROUPS
Co-dominant inheritance
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WHICH BLOOD TYPE IS MOST COMMON?
TYPE O
WHICH IS THE NEXT MOST COMMON?
TYPE A
WHICH IS THE RAREST?
TYPE AB
WHICH IS THE 2ND RAREST?
TYPE B
DONORS
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A’S CAN GIVE TO ?
A’S, AB’S
B’S CAN GIVE TO ?
B’S, AB’S
AB’S CAN GIVE TO
AB’S,
• O’S CAN GIVE TO ?
• ANYONE!
• THEY ARE A
UNIVERSAL DONOR
RECEIVERS
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A’S CAN RECEIVE FROM
A’S & O’S
B’S CAN RECEIVE FROM
B’S & O’S
O’S CAN RECEIVE
FROM?
• O’S ONLY!
• AB’S CAN RECEIVE
FROM AB’S, A’S, B’S, &
O’S !
• THEY ARE THE
UNIVERSAL RECIPIENTS!
II. BLOOD GROUPS-TYPING
Antigen
BLOOD TYPE PUNNETT SQUARE
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• BLOOD TYPE ALLELES
TYPE O- ii
TYPE A- IA IA OR IA i
TYPE B- IB IB OR IB i
TYPE AB- IA IB
Rh TYPE
HW online Blood Typing Game
• BLOOD GROUPS ALSO HAVE ANOTHER ANTIGEN
(protein on cells) FOR Rh
• Rh+ ALLELES- Rh+/Rh+ OR Rh+/Rh- Can receive Rh+
or • Rh- ALLELES- Rh-/Rh- Should get only Rh- because
produce anti-Rh if ever given Rh+ blood
• Example If a PREGNANT WOMAN has an Rh+ BABY &
SHE IS Rh- then it could be a problem if the CORD
BLOOD MIXES with the MOM’S
• On a 2nd pregnancy she COULD produce ANTIBODIES
AGAINST the BABIES BLOOD & CAUSE DEATH of the
BABY
Karyotype image of all 23 chromosome pairs
Animation
Learn how to Karyotype/
IV.
DIAGNOSIS OF GENETIC DISORDERS
PRENATAL SCREENING
• DOWN SYNDROME TRISOMY OF 21ST chromosome
1/ 800 BIRTHS
• AMNIOCENTESIS insertion of a needle to extract
Amniotic fluid from the placenta of the FETUS. Collects
cells from the fetus
– Done in the15-20TH WEEK of pregnancy
– The cells go through Mitosis and are stopped during
metaphase. An examination of all 23 pairs of
chromosomes
– KARYOTYPING Look at number, size, shape of
chromosomes
– RESULTS take several weeks.
II.
SEX-LINKED INHERITANCE
color Blind Test
• A. COLOR-BLINDNESS,
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Recessive trait on the X chromo.
Lack of pigments made in the eye which are for color vision
Most common form is RED/GREEN color blindness
In Caucasian population
8% OF MALES, 1% FEMALES
• B. HEMOPHILIA protein for blood clotting is missing
– Recessive carried on the X chromosome
– 1 IN 10,000 MALE, 1 IN 100,000 FEMALE births
• C. MUSCULAR DYSTROPHY There are 9 types
– Recessive carried on the X chromosome
– Protein to keep muscle cells together is missing.
– Starts ages 2-6 and leads to progressive deterioration of muscle
tissues
III.
SEX INFLUENCED TRAITS
• Trait is on a body chromosome, but phenotype expression differs in
sexes
• BALDNESS is expressed differently phenotypically in the sexes.
• BALDNESS is a dominant allele B in men. BB/Bb inheritance can
lead to baldness.
• In woman however it is bb recessive. If she is Bb she is not bald.
Scientists believe though it is probably polygenetic trait, many genes
are needed, not just 1.
Male pattern
Female pattern
PEDIGREE CHART DETAILS
http://www.zerobio.com/drag_gr11/pedigree/pedigree_overview.htm
PEDIGREE CHART