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Created: 2017-05-31 Last Modified: 2017-06-09
the basic unit of genetic material - a defined portion of a chromosome that encodes for a particular trait or substance such as hair color, blood type, etc.
the different forms a particular gene can occur in (e.g. brown, blue, green eyes) - you have two copies of each gene (one from mom and one from dad) so there are two potential alleles for each
codominant/incomplete dominace
neither masks the other so both are expressed (AB blood type)
the makeup of the genes - which 2 alleles are present
what actually gets expressed - what you "see"
type A- antigen on red blood cell's surface; type B - B antigen on surface; type AB - both A and B antigens on surface; type O - neither A or B antigen on surface
O is recessive - to have type O blood, an individual must be homozygous (OO); A is dominant- to have type A blood, an individual can be either (AA or AO); type B is also dominant - to have type B you can be either (BB or BO); AB blood has an AB genotype, because the genes are codominant.
in blood donations/transfusions, what will happen
you will react (produce antibodies) against the type(s) you don't have even without prior exposure
can receive from A or O, can donate to A or AB
can receive from B or O, can donate to B or AB
can receive from A, B, AB, or Ol can donate to AB
can receive from O; can donate to A, B, AB, or O
transfusion reactions with the Rh blood system
you will once again react (produce antibodies) against the type(s) / antigen(s) you don't have - in this case, Rh- individuals react against Rh+ cells but only after prior exposure
when an Rh- mother is carrying a Rh+ child. after she is exposed to Rh+ RBC's during the first pregnancy, she may produce IgG antibodies which will cross the placenta and attack deal RBC's in later pregnancies. this is known as hemolytic disease of the newborn or Rh disease
the most common x-inked disorder - a defect in clotting proteins (a recessive trait, designated by a small h)
when can males and females be considered hemopheliac
males - XhY; females XhXh. for females to have it, they have to have both X chromosomes with the h
most common form of color blindness
defect in the production of melanin
a change of a single nucleotide of the hemoglobin b gene (molecule that carries oxygen) - RBC's have typical sickle shape
phenylketonuria - a defect in the enzyme that normally converts Phe to Tyr leads to buildup of phenylalanine in the bloodstream and neurological problems
CF. enzyme defect causes the production of abnormal mucus which causes problems in both the respiratory and gastrointestinal tracts
what does the term autosomal recessive disorder refer to
you must have 2 copies of the bad gene in order for it to be expressed because the trait is on chromosomes other than the sex chromosomes. it must be recessive (cc). if its (Cc) you are a carrier of the gene but do not have the disorder
autosomal dominant disorders
because the gene is dominant, you only need one copy to have the disorder - therefore just one paren needs to have the gene/allele, not both - there are no "carriers"
an invariably fatal neurological disorder which does not show up until 30 or 40 years of age - after the person has had children and possibly passed the gene on
chromosomal and structural disorders general concepts
these involve physical or structural defects in the chromosomes rather than in the genes - they often result fro nondisjunction, where one or more chromosome pairs do not separate during mitosis or meiosis - this leads to cells having too many or too few chromosomes due to unequal distribution during cell division
refers to more than the usual amount of a particular chromosome
also known as trisomy 21 due to the fact that there are 3 copies of that chromosome rather than 2 - associated with structural defects of the face and neurological problems. other examples are XXY (Klinefelter syndrome) or XYY
only one copy of the chromosomes - an example is women with only one X chromosome (turners syndrome)
Dan is a nucleic acid - composed of 4 bases or nucleotides - A, G, C, and T. the three main components of a nucleotide are a 5-carbon sugar, a nitrogenous base (purine or pyrimidine) and a phosphate group
the two strands of DNA are connected by hydrogen bonding between bases in the two strands. known as base pairing. A only pairs with T and G only pairs with C.
the two strands of DNA form a ...
a DNA sequence that triggers gene expression/ transcription
what is the difference in base pairing with RNA vs. DNA
in RNA there is U (uracil) instead of T, so the pairing is A-U and G-C
the initial step is the splitting of the two strand to form a replication fork - it involves helices enzymes - each single stranded DNA will then serve as the template for the synthesis of a complementary (not identical) new strand (e.g. where there is a G in the old strand there will be a C in the new strand). The enzyme primarily responsible for this process is DNA polymerase - gaps in the lagging DNA strand are joined by DNA ligase. DNA polymerase (along with a target specific primer and heat) is a key part of a testing procedure known as the Polymerase Chain reaction (PCR) which can amplify small amount of DNA or RNA being looked for
one strand of the DNA molecule is read to produce RNA - transcription. the mRNA attaches to ribosomes to trigger the production of protein (translation) - the condons in the mRNA are "read" by transfer RNA (tRNA) to place the appropriate amino acids in their place
a DNA sequence that triggers gene expression/transcription
are a cluster of genes controlled by a single promoter (the lac operon is often used as an example of this)
refers to a permanent change in the structure of the DNA which is passed on to the offspring of the effected cell - it may or n=may not have a xnoticebaleeffect and the effect may be either helpful or harmful
a single base is changed - this leads to a change in the codon ( e.g. UGC --> UGG) which in turn leads to the production of a different amino acid. the "sense" or meaning of the codon has been changed. a change in the first two of the three letters in a codon will have the greatest impact
a single base is changed. this leads to a change in the codon (e.g. UAG, UAC) so that it becomes a stop codon which terminates the synthesis of the protein at that point in the mRNA instead of at the real end of the protein - how near this is to the start or end of the message determines its impact
the way the codons in the mRNA are read is messed up by adding or removing bases (the location of this change determines its impact - the closer it is to the start of the message, the more harmful it will be )
an extra base is inserted into the DNA molecule - this throws off the codon it ends up in and also all those "downstream" from that point (a major change)
in this case a base is deleted from the DNA molecule - this again throws off the codon it ends up in and also all those "downstream" from that point (a major change)
refers to the transfer of genetic information from one organism (the donor) to another (the recipient)
bacteria take up DNA from their surroundings through the cell wall of the recipient bacteria and integrated into its own DNA - this can also be done in the laboratory
involves transfer of a small piece of DNA (a plasmid) or possibly chromosomal DNA from one bacteria to another that is connected by a sex pilus - the donor bacteria are designated F+ of Hfr and the recipient bacteria F - ; antibiotic resistance and other genes can be transferred this way
a virus (bacteriophage) carries genetic information from one bacteria to another
transposable genetic elements - aka "jumping genes" - genetic elements that move from one place to another within a chromosome
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