Term
| What % of DNA sequences are different in each individual and account for uniqueness? |
|
Definition
|
|
Term
|
Definition
| Alterations of Genomic DNA that results in the genome having an abnormal number of copies of 1 or more section of the DNA |
|
|
Term
| How many mutated bases in the B-Globin gene are necessary to produce Sickle Cell Disease? |
|
Definition
|
|
Term
| What are 3 broad results of Genetic Variation that has a phenotypic effect but does not result in disease? |
|
Definition
Therapeutic or Adverse Responses to Drugs
Susceptibility to infection, common diseases
variability in personality traits |
|
|
Term
|
Definition
| any change in a DNA sequence |
|
|
Term
| Mutation (as it relates to Human Genetics) |
|
Definition
| DNA sequence changes that cause genetic diseases and are relatively rare in the population |
|
|
Term
|
Definition
| DNA sequence changes which are more common in population and usually do not cause Mendelian diseases |
|
|
Term
|
Definition
| if 2 or more alleles are each present in >1% of heterozygote individuals in a given population |
|
|
Term
| Rare Sequence Variants (Rare Mutations) |
|
Definition
| if alleles are present in <1% of heterozygote individuals in a given population |
|
|
Term
| Variants at single NT positions on a chromosome which account for much of the variation in the human genome |
|
Definition
| Single Nucleotide Polymorphisms |
|
|
Term
|
Definition
|
|
Term
| How many confirmed SNPs in the SNP database and how many of these are located in genes? |
|
Definition
|
|
Term
|
Definition
| SNPs that do not affect the protein sequence |
|
|
Term
|
Definition
| SNPs that do change the protein sequence |
|
|
Term
| 3 areas in which SNPs could fall? |
|
Definition
| coding sequences of genes, noncoding sequences of genes, regions between genes |
|
|
Term
| in what 4 ways could an SNP that is not in the protein coding region still affect protein production/f(x) |
|
Definition
| Gene splicing (alternative), trans.factor binding, mRNA degradation, sequence of noncoding RNA |
|
|
Term
|
Definition
| Alterations of the DNA of a genome of >,=1 Kb that results in cell having a different number of copies of 1 or more sections of DNA |
|
|
Term
| How many CNVs in human genome? |
|
Definition
|
|
Term
|
Definition
| Genomic Mutations, Chromosome Mutations, Gene Mutations |
|
|
Term
| Genomic Mutation and example |
|
Definition
| Alteration in the number of chromosomes - missegregation(Down Syndrome) |
|
|
Term
| Chromosome Mutation and example |
|
Definition
| Alteration in the structure of chromosomes (e.g. translocation -> Philadelphia Chromsome - cancer) |
|
|
Term
| Gene Mutations and 3 types |
|
Definition
| Base-Pair Mutations (codon changes, splice site mutations, loss/gain of DNA) |
|
|
Term
| 4 things that Silent mutations can affect? |
|
Definition
| Protein translation efficiency, 2ndary structure of mRNA, RNA stability, protein folding and f(x) |
|
|
Term
|
Definition
| Protein product is only nonf(x)al but also inhibits f(x) of normal protein - genes that encode multimeric proteins |
|
|
Term
| Most common type of genetic disease-causing mutation |
|
Definition
|
|
Term
| T/F There are only a few different mutations that can cause Cystic Fibosis? |
|
Definition
| False. >1000 mutations known. But F508 mutations found in 70% of Caucasians |
|
|
Term
| What is the frequency worldwide of the deltaF508 mutation in Cystic Fibrosis patients? |
|
Definition
|
|
Term
| The results of the 1000 Genome Project show that each genome is heterozygous for ___ - ___ variants which have been found to cause inherited diseases |
|
Definition
|
|
Term
|
Definition
| Mutations which arise naturally during the process of DNA replication |
|
|
Term
| At what point in the cell cycle are most of the mutations removed |
|
Definition
|
|
Term
| 2 levels at which mutations can be detected? |
|
Definition
|
|
Term
| Chromosomal Th. of heredity |
|
Definition
| concept that the invisible and hypothetical entities called genes are parts of th evisible structures called chromosomes |
|
|
Term
| Who discovered the Chromosomal Th. of Heredity? What century? |
|
Definition
| Walter Sutton and Theodor Boveri, early 1900s |
|
|
Term
| What discovery in mid 1900s answered the question of how DNA was able to direct its own replication and pass the genetic info to the next generation? |
|
Definition
| Watson and Crick's discovery of the double helix |
|
|
Term
| How many BPs in diploid cells? |
|
Definition
|
|
Term
| What % of the human genome do unique (low copy) DNA and Repetitive DNA make up, respectively? |
|
Definition
| 40% unique DNA, 60% repetitive |
|
|
Term
| What % of genome do exons make up? |
|
Definition
|
|
Term
| Roughly how many genes are there in human genome? |
|
Definition
|
|
Term
| 3 explanations for why humans have approximately the same number of genes as lower organisms but are more complex, biochemically... |
|
Definition
1. Alternative Splicing
2. More than 1 promoter/ gene
3. Missed exons/ parts of genes |
|
|
Term
| New definition of a gene? |
|
Definition
| Union of genomic sequences encoding a coherent set of potentially overlapping f(x)al products |
|
|
Term
|
Definition
| the whole set of molecular interactions in cells - one explanation for the lower-than-expected number of human genes |
|
|
Term
| 2 types of Repetitive DNA |
|
Definition
1. Tandem repeats (clustered in 1 or a few locations)
2. interspersed repeats (throughout the genome) |
|
|
Term
|
Definition
| DNA repeats, 2 bp long, that are adjacent to each other and can involve 2 - many 1000s of copies. Make up centromeres and telomeres. |
|
|
Term
|
Definition
| Identical or nearly identical DNA repeat sequences of various length that are spread out throughout the genome |
|
|
Term
| T/F Interspersed repetitive DNA are found next to each other |
|
Definition
| False - scattered randomly throughout the genome |
|
|
Term
| 3 types of Tandem repeats |
|
Definition
| Satellite DNA, minisatellite, microsatellite |
|
|
Term
| length of DNA in a 1 micron cell |
|
Definition
|
|
Term
| T/F a chromosome is made of 1 single stranded DNA? |
|
Definition
|
|
Term
|
Definition
1. Package DNA into a smaller volume to fit in cell
2. strengthen the DNA to allow during Mitosis and Meiosis movement of chromosomes
3. serve as a mechanism to control expression and DNA replication |
|
|
Term
| basic unit of chromosome? |
|
Definition
|
|
Term
| What makes up nucleosomes? |
|
Definition
| 146 nucleotides surrounding 8 histone proteins and an Hi Linker protein |
|
|
Term
| What terminus of amino acids sticks out from the Histone proteins? |
|
Definition
|
|
Term
| T/F Higher-order folding of the nucleosomal DNA can give rise to either the less condensed Active Euchromatin or to the highly condensed, Heterochromatin |
|
Definition
|
|
Term
| With regard to gene activation, what happens when the cytosines become unmethylated and the histones become acetylated? |
|
Definition
| Gene is "turned on". Transcription occurs. |
|
|
Term
|
Definition
| study of heritable changes in gene expression that are not due to changes in the DNA sequence |
|
|
Term
| size of Linker D?NA between nucleosomes? |
|
Definition
|
|
Term
|
Definition
| phrase to describe the way in which DNA is wrapped around the histones |
|
|
Term
|
Definition
| discrete sections of the nucleus where chromosomes cluster together |
|
|
Term
|
Definition
| New theory to describe organization of chromatin in which there are no overlapping strands which allows DNA to unwind more easily and provides more interaction between close parts |
|
|
Term
| T/F The new theory of chromosome structure says that when a cell specializes, it starts turning particular genes on/off which means it is DYNAMICALLY FOLDING ITS GENOME |
|
Definition
|
|
Term
| Where are the transcription factories found? |
|
Definition
| in active territories- center of nucleus |
|
|
Term
| Where are the inactive territories? |
|
Definition
| periphery of nucleus - close to nuclear lamina |
|
|
Term
| What polymerase is found in transcription factories? |
|
Definition
|
|
Term
|
Definition
| short arm of the submetacentric and acrocentric chromosomes |
|
|
Term
|
Definition
| long arm of the submetacentric and acrocentric chromosomes |
|
|
Term
| T/F Gene transcription continues during Mitosis |
|
Definition
| False - gene activity is decreased as the chromosomes condense until it completely ceases at mitosis |
|
|
Term
| In which phase of Mitosis/Meiosis, can one first see that each chromosome is composed of 2 doubles helices joined by a centromere? |
|
Definition
|
|
Term
| Trigger for condensation of chromosomes? |
|
Definition
| Activation of cyclinB1-Cdk1 by phosphorylation and movement from the cytoplasm into nucleus which activates the protein Condensin |
|
|
Term
| T/F There is chromosomal pairing in mitosis? |
|
Definition
| False - chromosomes line up on equatorial plate independently |
|
|
Term
| Biological significance of Mitosis? |
|
Definition
| Ensuring consistency of chromosome number |
|
|
Term
| In what ways does meiosis differ from mitosis? |
|
Definition
Chromsomes pair - those chromosomes undergo recombinatino which shuffles the genes
Outcome is 4 unique haploid cells (as opposed to 2 identical diploid cells) |
|
|
Term
| In which meiotic phase do synapsis and x-ing over occur? |
|
Definition
|
|
Term
| in which meiotic phase do the tetrads line up on the plate? |
|
Definition
|
|
Term
| in which meiotic phase, do the homologous pairs separate? |
|
Definition
|
|
Term
| What promotes the pairing of chromosomes in Meiosis? |
|
Definition
1. Clustering of telomeres in prophase aligns homologous chromosomes to promote their pairing
2. Noncoding Sme2 RNA transcripts accumulate at loci enhance pairing |
|
|
Term
| What holds the chromatids together during prophase I? |
|
Definition
|
|
Term
| in which meiotic phase are ds breaks deliberately induced and undergo regulated repair? |
|
Definition
|
|
Term
| T/F x-ing over occurs between non-sister chromatids |
|
Definition
|
|
Term
|
Definition
| preferred chromosomal locations where crossing over occurs |
|
|
Term
| What stage is the oocyte stopped in before birth? |
|
Definition
|
|
Term
| When is meiosis I completed? |
|
Definition
|
|
Term
| in which stage is the 2ndary occyte ovulated? |
|
Definition
|
|
Term
| in which location of body does Meiosis II begin? |
|
Definition
|
|
Term
| how many oocytes mature and are ovulated? |
|
Definition
|
|
Term
| What % of the 1st trimester miscarriages are caused by a genetic abnomality in teh fetus that prevents it from developing |
|
Definition
|
|
Term
| 3 types of Hemoglobinapathies? |
|
Definition
Structural Variants
Thalassemias
Hereditary Persistence of Fetal Hemoglobin (HPFH) |
|
|
Term
|
Definition
| Diseases caused by decreased synthesis of 1 or more of the globin chains, resulting in an imbalance in the relative amounts of the alpha and Beta chains |
|
|
Term
| Structural Variants of the Hemoglobinopathies? |
|
Definition
| Alter the Globin peptide sequence w.out affecting its rate of synthesis |
|
|
Term
| Common mutation present in alpha-Thalassemias? |
|
Definition
|
|
Term
| common mutation present in Beta-thalassemias? |
|
Definition
|
|
Term
|
Definition
Heterozygous a-Thalassemia 2
"Silent Carrier" |
|
|
Term
|
Definition
Heterozygous a-thalassemia 1
"a-Thal Train" |
|
|
Term
|
Definition
a-thalassemia 1 phenotype in blacks
homozygous a-thalassemia 2
"a-THAL TRAIT" |
|
|
Term
|
Definition
|
|
Term
|
Definition
Hydrops Fetalis with
Hb Bart's (=y4) |
|
|
Term
| How many mutant alpha genes necessary to show signs of anemia? |
|
Definition
|
|
Term
| What are the symptoms of HbH disease? |
|
Definition
Pallor (paleness)
Jaundice (yellowness)
Splenomegaly (enlargement of spleen)
Skeletal deformity (bone marrow expand
Changes in skin pigmentation |
|
|
Term
|
Definition
| Carrier of 1 B- Thalassemia Allele and clinically well |
|
|
Term
| t/f Thalassemia Major is transfusion dependent |
|
Definition
|
|
Term
|
Definition
| 2 B- Thal Alleles, no HbA at all (Bo-thal), some HbA - one mutant allele, one partially mutant (B+) |
|
|
Term
| Why do alpha thalassemia symptoms present earlier? |
|
Definition
| fetal Hb is made of alpha and gamma chains |
|
|
Term
| B-thalassemia Major symptoms |
|
Definition
| severe hemolytic anemia, pale and listless appearance, poor appetite, dark urine, slowed growth, delayed puberty, jaundice, leg ulcers, enlarged spleen and liver, bone marrow expansion, CHF |
|
|
Term
| What are the most common types of mutations that cause B-Thalassemias? |
|
Definition
| missense, nonsense, splice site |
|
|
Term
| Treatment for thalassemias |
|
Definition
1. regular blood transfusions
2. Fe chelatin therapy to remove excess iron
3. Bone marrow transplantation
4. removal of spleen sometimes |
|
|
Term
| Hereditary Persistence of Fetal Hemoglobin (HPFH) |
|
Definition
| benign condition in which significant fetal Hemoglobin (HbF) production continues into adulthood |
|
|
Term
| What causes HPFH (mutations) |
|
Definition
| large deletions that remove whole B-globin Locus |
|
|
Term
|
Definition
|
|
Term
| 2 genes responsible for the regulation of HbF |
|
Definition
|
|
Term
|
Definition
|
|
Term
a lower -50 = _____
binding of o2 |
|
Definition
|
|
Term
| What is concentration of HbA1c used to measure? |
|
Definition
|
|
Term
| Is the single mutation in sickle cell disease take place in a-globin or B-globin? |
|
Definition
|
|
Term
| in pathogenesis of sickle cell disease,RBCs sickle in oxygenated or deoxygenated form? |
|
Definition
|
|
Term
|
Definition
| Anemia, Pain, Hand-foot syndrome (swollen extremities), Jaundice (yellowing of skin/eyes), frequent infections, delayed growth, vision problems |
|
|
Term
|
Definition
| stroke, acute chest syndrome, pulmonary hypertension, organ damage, blindness, skin ulcers, gallstones, priapism |
|
|
Term
|
Definition
| need constant treatment even when not in crisis, adequate fluids, folic acid, analgesics for pain, antibiotic therapy, blood transfusions, hydroxyurea, bone marrow transplant |
|
|
