Term
| What can cause chromosomal abnormalities? |
|
Definition
| incorrect number of chromosomes |
|
|
Term
| What causes an incorrect number of chromosomes? |
|
Definition
nondisjunction
breakage of chromosomes |
|
|
Term
|
Definition
| chromosomes don't separate properly during meiosis |
|
|
Term
| what causes the breakage of chromosomes? |
|
Definition
deletion
duplication
inversion
translocation |
|
|
Term
| what cause errors in daughter cells? |
|
Definition
| problems with meiotic spindle |
|
|
Term
| in nondisjunciton, what do homologous chromosomes do? |
|
Definition
| They DO NOT separate properly during Meiosis 1 |
|
|
Term
| in nondisjunction, what do sister chromatids fail to do? |
|
Definition
| FAIL TO separate during Meiosis 2 |
|
|
Term
|
Definition
| cells have 3 copies of a chromosome |
|
|
Term
|
Definition
| cells have only 1 copy of a chromosome |
|
|
Term
| Human chromosome disorders have a high frequency in humans. What could this be caused by? |
|
Definition
most embryos are spontaneously aborted
alterations are too disastrous
developmental problems result from biochemical imbalance |
|
|
Term
| in human chromosome disorders, certain conditions are tolerated. What are the characteristics of this? |
|
Definition
upset the balance less=survivable
but characterisit set of symptoms= syndrome |
|
|
Term
| What is another name for Down Syndrome? |
|
Definition
|
|
Term
| what causes down syndrome? |
|
Definition
| 3 copies of chromosome 21 |
|
|
Term
| what is the frequency of down syndrome? |
|
Definition
| 1 in 700 children born in US |
|
|
Term
| __________________________ is the smallest human chromosome |
|
Definition
|
|
Term
| Does the age of the mother of a child with down syndrome matter/ |
|
Definition
| Yes. Frequency of Down Syndrome correlates with the age of the mother |
|
|
Term
| What type of Genetic Testing is available? |
|
Definition
Amniocentesis in 2nd trimester
Analysis of a karyotype |
|
|
Term
| What happens in Amniocentesis? |
|
Definition
sample of embryo cells
stain & photograph chromosomes |
|
|
Term
| What causes sex chromosome abnormalities? |
|
Definition
| wrong numbers in sex chromosome, but produces a variety of distinct syndromes in humans |
|
|
Term
What is this syndrome?
XXY |
|
Definition
| Klinefelter's syndrome male |
|
|
Term
What is this syndrome?
XXX |
|
Definition
|
|
Term
What is this syndrome?
XXY |
|
Definition
|
|
Term
What is this syndrome?
XO |
|
Definition
|
|
Term
| What happens to men with Klinefelter's syndrome? |
|
Definition
have male sex organs, but are sterile
have feminine characteristics (some breast development, lack of facial hair)
tall
normal intelligence |
|
|
Term
| What happens in Jacob's syndrome? |
|
Definition
extra Y chromosome
slightly taller than average
more active
normal intelligence, slight learning disabilities
delayed emotional immaturity
normal sexual development |
|
|
Term
| What happens in Trisomy X? |
|
Definition
| produces healthy females because of barr bodies |
|
|
Term
| What happens in turner syndrome? |
|
Definition
varied degree of effects
webbed neck
short stature
sterile |
|
|
Term
|
Definition
| loss of a chromosomal segment |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
|
Definition
| move segment from one chromosome to another |
|
|
Term
| Who is the father of genetics? |
|
Definition
|
|
Term
| What did Gregor Mendel originally document? |
|
Definition
|
|
Term
| What did Mendel do when he bred pea plants? |
|
Definition
cross-pollinated true breeding parents
P=PARENTAL |
|
|
Term
| What did Mendel do when he raised seed ant then observed traits? |
|
Definition
F=FILIAL
allowed offspring to self |
|
|
Term
| different alleles vary in the sequence of ___________ at the specific ____________ of a gene. |
|
Definition
|
|
Term
| For each characteristic, an organism inherits how many alleles? How many from each parent? |
|
Definition
2 Alleles total
1 from each parent |
|
|
Term
| What type of organism inherits 2 sets of chromosomes? |
|
Definition
|
|
Term
| in diploid organisms, the chromosomes must be homologous or heterozygous? |
|
Definition
|
|
Term
| what is the dominant allele? |
|
Definition
functional protein
masks other alleles |
|
|
Term
| what is the recessive allele? |
|
Definition
| allele makes a malfunctioning protein |
|
|
Term
|
Definition
description of an organism's trait
the "physical" |
|
|
Term
|
Definition
| description of an organisms genetic makeup |
|
|
Term
Is this homozygous or heterozygous?
PP, pp |
|
Definition
|
|
Term
Is this homozygous or heterozygous?
Pp |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What is the law of segregation? |
|
Definition
during meiosis, alleles segregate
each allele for a trait is packaged into a separate gamete |
|
|
Term
| what happens when the alleles segregate? |
|
Definition
| homologous chromosomes separate |
|
|
Term
| What is the law of independent assortment? |
|
Definition
| different loci (genes) separate into gametes independently |
|
|
Term
| non-homlogous chromosomes align __________ |
|
Definition
|
|
Term
| In law of segregation, what type of cross is made? |
|
Definition
|
|
Term
| what happens in law of segregation? |
|
Definition
each allele segregates into separates into separate gametes
established by Metaphase 1 |
|
|
Term
| What type of cross is made in law of independent assortment? |
|
Definition
|
|
Term
| what happens in law of independent assortment? |
|
Definition
genes on separate chromosomes assort into gametes independently
established by Metaphase 1 |
|
|
Term
| Why are pea plants good for genetic research? |
|
Definition
available in many varieties with distinct heritable features with different variations (flower color, seed color, seed shape...)
Mendel had strict control over which plants mated with which |
|
|
Term
| In incomplete dominance, what does the heterozygote show? |
|
Definition
| an intermediate, blended phenotype |
|
|
Term
| In co-dominacne, what do the two alleles affect? |
|
Definition
| the phenotype equally and separately |
|
|
Term
|
Definition
|
|
Term
|
Definition
| one gene affects more than one phenotypic character |
|
|
Term
| What is polygenic inheritance? |
|
Definition
| some phenotypes determined by additive effects of 2 or more genes on a single character |
|
|
Term
|
Definition
|
|
Term
| Where are autosomal chromosomes located? |
|
Definition
| anywhere but the sex chromosomes |
|
|
Term
| How many sex chromosomes are there? |
|
Definition
|
|
Term
| What type of sex chromosomes does a female have? |
|
Definition
|
|
Term
| What type of sex chromosomes does a male have? |
|
Definition
|
|
Term
| What is the sex determining region? |
|
Definition
|
|
Term
| What does the Y chromosome master? |
|
Definition
|
|
Term
| Why does the Y chromosome turn on genes? |
|
Definition
| for production of male hormones |
|
|
Term
|
Definition
| condenses into compact object |
|
|
Term
| What makes male pattern baldness? |
|
Definition
sex influenced trait
dominant in males, recessive in females |
|
|
Term
| What is a pedigree analysis? |
|
Definition
| reveals Mendelian patterns in human inheritance |
|
|
Term
| What do pedigrees help us do? |
|
Definition
| understand the past and predict the future |
|
|
Term
| thousands of genetic disorders are inherited as simple _______ traits |
|
Definition
|
|
Term
| Who is tested in Genetic Testing? |
|
Definition
|
|
Term
| What are carriers in recessive diseases? |
|
Definition
| have a normal phenotype because one "normal" allele produces enough of the required protein |
|
|
Term
| who is mainly effected by cystic fibrosis? |
|
Definition
| whites of European descent |
|
|
Term
| What happens in cystic fibrosis? |
|
Definition
defective or absent channels limit transport of Cl- and H2O across cell membrane
thicker and stickier mucus coats around cells
mucus build up in the pancreas, lungs, digestive tract, and causes bacterial infections |
|
|
Term
| What happens to children with cystic fibrosis? |
|
Definition
without treatement, will die before 5
with treatment can live past their late 20s |
|
|
Term
| Who is primarily effected by Tay-Sachs? |
|
Definition
| Jews of Eastern European descent and Cajuns |
|
|
Term
| What happens in Tay Sachs? |
|
Definition
| non functional enzyme fails to breakdown lipids in brain cells |
|
|
Term
| What are some complications of Tay Sachs? |
|
Definition
seizures
blindness
degeneration of muscle and mental performance |
|
|
Term
|
Definition
| fats collect in cells destroying their function |
|
|
Term
| When do symptoms of Tay Sachs start showing up? |
|
Definition
|
|
Term
| Who is primarily affected by Sickle Cell Anemia? |
|
Definition
|
|
Term
| What is Sickle Cell Anemia caused by? |
|
Definition
| substitution of a single amino acid in hemoglobin |
|
|
Term
| What happens in Sickle Cell Anemia when oxygen levels are low? |
|
Definition
| sickle-cell hemoglobin crystallizes into long rods |
|
|
Term
| Are carriers for Sickle Cell Anemia usually unhealthy? |
|
Definition
| No. Carriers are usually healthy. |
|
|
Term
| In Sickle Cell Anemia, the 2 alleles are _______________ |
|
Definition
|
|
Term
| In Africa, where Sickle Cell Anemia is common, if you are homozygous dominant you will..... |
|
Definition
| die of Sickle Cell Anemia |
|
|
Term
| In Africa, Sickle Cell Anemia is common, if you are homozygous recessive you will.... |
|
Definition
| die of Sickle Cell Anemia |
|
|
Term
| In Africa, whereSickle Cell Anemia is common, if you are heterozygous for sickle cell..... |
|
Definition
|
|
Term
| What did T.H. Morgan primarily work with? |
|
Definition
|
|
Term
| What did Morgan do in his experiment? |
|
Definition
| associated phenotype with specific chromosome |
|
|
Term
| What was Frederick Griffith primarily working with? |
|
Definition
Strepococcus pneumonia bacteria
(Finding a cure for pneumonia) |
|
|
Term
|
Definition
|
|
Term
| What did Avery, McCarty, and MacLeod do? |
|
Definition
purified bot hDNA and proteins separately from Strepococcus pneumonia bacteria
Injected protein into bacteria, which had no effect
injected DNA into bacteria, which transformed harmless bacteria into virulent bacteria |
|
|
Term
| What did Avery, McCarty, and MacLeod conclude? |
|
Definition
| first experimental evidence that DNA was the genetic material |
|
|
Term
| Who developed the double helix model of DNA? |
|
Definition
|
|
Term
DNA--> RNA
Transcription or Translation? |
|
Definition
|
|
Term
RNA--> protein
Transcription or Translation? |
|
Definition
|
|
Term
|
Definition
U:A
C:G
URACIL INSTEAD OF THYMINE!!!! |
|
|
Term
| What is the transcribed DNA strand called? |
|
Definition
|
|
Term
| What is the untranscrbed DNA strand called? |
|
Definition
|
|
Term
| How many polymerase enzymes are there? |
|
Definition
|
|
Term
| What does RNA polymerase 1 do? |
|
Definition
only transcribes rRNA genes
makes ribosomes |
|
|
Term
| What does RNA polymerase 2 do? |
|
Definition
| transcribes genes into mRNA |
|
|
Term
| What does RNA polymerase 3 do? |
|
Definition
| only transcribes tRNA genes |
|
|
Term
| What do all the RNA polymerases have in common? |
|
Definition
| each has a specific promoter sequence it recognizes |
|
|
Term
| What is the Promoter region? |
|
Definition
| binding site before beginning of gene |
|
|
Term
| What is the TATA box binding site? |
|
Definition
| binding site for RNA polymerase & transcription factors |
|
|
Term
| What is the Enhance region? |
|
Definition
| binding site far upstream of gene |
|
|
Term
| Where do transcription factors bind? |
|
Definition
|
|
Term
| Once transcription factors bind to the promoter region, what happens next? |
|
Definition
| it triggers the binding of RNA polymerase to DNA |
|
|
Term
|
Definition
| the real gene EXpressed/coding DNA |
|
|
Term
|
Definition
| the junk in DNA/ INbetween sequence |
|
|
Term
| primary transcript = ???? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What is the final step of mRNA splicing? |
|
Definition
| make mature mRNA transcript |
|
|
Term
|
Definition
small nuclear RNA
proteins |
|
|
Term
|
Definition
several snRNPs
recognize splice site sequence (cut and paste gene) |
|
|
Term
| post-transcriptional processing need to protect ____________ on its trip from ___________ to ____________ |
|
Definition
|
|
Term
| enzymes in __________ attack mRNA |
|
Definition
|
|
Term
| What happens as a result of the enzymes in the cytoplasm attacking mRNA? |
|
Definition
protect the ends of the molecule
add 5' GTP cap
add poly-A tail |
|
|
Term
| Who determined the 3-letter (triplet) codon system? |
|
Definition
|
|
Term
| Who determined mRNA-amino acid match? |
|
Definition
|
|
Term
|
Definition
|
|
Term
| What are the stop codons? |
|
Definition
|
|
Term
| what is the aminoacyl tRNA synthetase |
|
Definition
| enzyme which bonds amino acid to tRNA |
|
|
Term
| does the aminoacyl tRNA synthetase bond require energy? |
|
Definition
yes
ATP--> AMP
bond is unstable, so it can release amino acid at ribosome easily |
|
|
Term
|
Definition
| facilitate coupling of tRNA anticodon to mRNA codon |
|
|
Term
| What is the structure of the ribosome? |
|
Definition
rRNA and proteins
2 subunits:
large
small |
|
|
Term
| What does the A Site do in ribosomes? |
|
Definition
| holds tRNA carrying next amino acid to be added to chain |
|
|
Term
| What does the P Site do in ribosomes? |
|
Definition
| holds tRNA carrying growing polypeptide chain |
|
|
Term
| What does the E Site do in ribosomes? |
|
Definition
| empty tRNA leaves ribosome from exit site |
|
|
Term
| What is initiation in building a polypeptide? |
|
Definition
| brings together mRNA, ribosome subunits, initiator tRNA |
|
|
Term
| What is elongation in building a polypeptide? |
|
Definition
| adding amino acids based on codon sequence |
|
|
Term
| What is termination in building a polypeptide? |
|
Definition
|
|
