associated associated-331 DUPLICATION, INVERSION, DELETION, TRANSLOCATION

Mutations 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 ndex.htm 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 e/ge/m3/s2/index.htm e/ge/m3/s2/index.htm A gene located on a A SEX CHROMOSOME is called a SEX-LINKED GENE MORGAN DISCOVERED the 1 ST SEX-LINKED gene in fruit flies He crossed a PUREBRED Dominant RED- EYED FEMALE W + W + with a PUREBRED recessive WHITE-EYED WW MALE Let’s take a look at the 1 st cross.

II. SEX-LINKED INHERITANCE 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 F- 1 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 INTER- MEDIATE 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?

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 2 ND RAREST? TYPE B I.BLOOD GROUPS Co-dominant inheritance

DONORS RECEIVERS 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 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 BLOOD TYPE ALLELES TYPE O- ii TYPE A- I A I A OR I A i TYPE B- I B I B OR I B i TYPE AB- I A I B

Rh TYPE HW online Blood Typing GameGame 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 2 nd 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 / AnimationKaryotype /

IV.DIAGNOSIS OF GENETIC DISORDERS PRENATAL SCREENING DOWN SYNDROME TRISOMY OF 21 ST chromosome 1/ 800 BIRTHS AMNIOCENTESIS insertion of a needle to extract Amniotic fluid from the placenta of the FETUS. Collects cells from the fetusAMNIOCENTESIS –Done in the15-20 TH 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.

A. COLOR-BLINDNESS, –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 II.SEX-LINKED INHERITANCE color Blind TestTest

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

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