Chapters 6-10
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
|
|
||||
---|---|---|---|---|---|
show | Pedigree
🗑
|
||||
Oldest generation at the____; youngest generation at the _____. | show 🗑
|
||||
show | Roman numerals
🗑
|
||||
Numbered from _____ to _____ within a single generation | show 🗑
|
||||
show | Autosomal recessive traits
🗑
|
||||
show | Autosomal dominant traits
🗑
|
||||
Affected phenotype seen more commonly in males Tend to skip generations. Affected males do not pass trait to sons. If woman is affected, 100% of sons will be affected | show 🗑
|
||||
Do not skip generations Seen in both males and females but more in females. Females can get disease from either parent while males can only get from mother Affected female will have 100% sons affected. Affected male will have 100% daughters affected | show 🗑
|
||||
show | Y linked
🗑
|
||||
Non-identical twins; fraternal 2 separate eggs fertilized 50% average relatedness; same as any sibling pair | show 🗑
|
||||
show | Monozygotic
🗑
|
||||
% of twin pairs that have the same trait Monozygotic twins are 100% genetically identical; dizygotic approx 50% Used to evaluate genetic vs environmental factors Genetic influenced traits will show higher concordance in monozygotic twins | show 🗑
|
||||
Examines effects of genes vs environment Adoption parents have 0% relatedness to adopted child, but share same environment Adoptees tend to resemble biological parents (obesity, alcoholism) | show 🗑
|
||||
bacteria acquired genetic information from dead strain which permanently changed bacteria | show 🗑
|
||||
What are the reasons for seeing a genetic counselor? | show 🗑
|
||||
show | Ultrasound, Amniocentesis, Chorionic villi sampling (CVS), Fetal cell sorting, Pre-implantation
🗑
|
||||
What is a Postnatal testing? | show 🗑
|
||||
What's an Ultrasound? | show 🗑
|
||||
show | Can be done 15-18 weeks
Trans-abdominally or trans-vaginally
Ultrasound guided
Needle inserted and ~15ml of fluid extracted
Fluid can be tested directly or fetal cells cultured prior to testing.
Each ml of fluid contains only ~10-15 cells
🗑
|
||||
What's a Chorionic villi sampling (CVS) | show 🗑
|
||||
Isolation of fetal cells from maternal bloodstream Minimally invasive | show 🗑
|
||||
IVF procedure One cell is removed from 8-16 cell embryo and tested Only “healthy” embryos are implanted | show 🗑
|
||||
show | Heterozygote/carrier testing
🗑
|
||||
Inherited cancer alleles – increased risk for cancer Late-onset diseases (Huntington disease) | show 🗑
|
||||
Diagnostic and prognostic value in cancer Infertility Child with structural chromosomal abnormality (Inherited or de novo mutation) | show 🗑
|
||||
show | Principle of Segregation
🗑
|
||||
show | Tetranucleotide theory
🗑
|
||||
2 alleles of a gene separate independently from alleles at other loci/other genes | show 🗑
|
||||
show | genes are on the same chromosome, they tend to travel together
🗑
|
||||
close together on the same chromosome | show 🗑
|
||||
If 2 genes are on the same chromosome, but far apart, crossing over can allow for recombination of gametes | show 🗑
|
||||
show | crossing over; linked
🗑
|
||||
Horizontal lines indicate | show 🗑
|
||||
individual heterozygous for 2 different genes where both dominant alleles are on __________, and both recessive alleles are on its _________. | show 🗑
|
||||
show | Testcross
🗑
|
||||
show | Testcross setup for linkage
🗑
|
||||
show | independently
🗑
|
||||
show | If closely linked
🗑
|
||||
show | crossing over
🗑
|
||||
Small number of recombinant progeny/chromosomes is seen when | show 🗑
|
||||
Single cross over produces 50% _______ and 50% | show 🗑
|
||||
show | Recombination frequency
🗑
|
||||
show | More closely linked
🗑
|
||||
Genes are linked | show 🗑
|
||||
show | <50%
🗑
|
||||
Both wildtype alleles are on one chromosome; both mutant alleles are on the homologous chromosome | show 🗑
|
||||
show | Trans configuration/repulsion
🗑
|
||||
Coupling and Repulsion for ________ individuals | show 🗑
|
||||
Between genes on different chromosomes Independent assortment/random segregation during Metaphase/Anaphase I Produces 50% recombinant/50% non-recombinant gametes | show 🗑
|
||||
show | Intrachromosomal
🗑
|
||||
Relative position of different genes based on recombination rates Does NOT state actual chromosome, or position (locus) Distance measured in map units or centimorgans (cM) | show 🗑
|
||||
Any genes with 50% recombination are either__________, or very far apart on the ________. (crossing over always separates them) | show 🗑
|
||||
show | Physical mapping
🗑
|
||||
show | Deletion mapping
🗑
|
||||
show | Somatic cell hybridization
🗑
|
||||
2 distinct nuclei | show 🗑
|
||||
Fluorescence In Situ Hybridization and DNA sequencing | show 🗑
|
||||
show | DNA sequencing
🗑
|
||||
Probe complementary to gene sequence will bind to DNA | show 🗑
|
||||
Example of deletion mapping | show 🗑
|
||||
Types of Bacteria | show 🗑
|
||||
Wild-type Can grow on minimal media Contains minimal nutrients – carbon, nitrogen, phosphorous, vitamins, ions | show 🗑
|
||||
Can not produce an essential enzyme or manufacture essential molecules Will only grow on media that contains the “missing” substance Complete media | show 🗑
|
||||
Liquid media Bacteria dies off when nutrients are used up or waste buildup becomes toxic Bacteria grow singularly – no colonies | show 🗑
|
||||
Growth media in agar Isolate individual colonies Each colony originates from a single bacterium | show 🗑
|
||||
Gives “carbon copies” of petri dish colonies Use sterilized velvet to make a stamp Some bacteria from each colony is transferred to velvet, and then transferred to new dishes | show 🗑
|
||||
show | Bacterial genome
🗑
|
||||
show | F factor episome
🗑
|
||||
show | Conjugation
🗑
|
||||
Bacteria takes up DNA from surrounding environment Recombination may occur | show 🗑
|
||||
Viral particle introduced DNA from a bacterium into a new bacterium | show 🗑
|
||||
Fertility factor/F factor contains ori and genes needed for? | show 🗑
|
||||
Forms a sex pilus – extension of cell membrane __ factor separates, and one strand is transferred into ___ __ contains __ factor | show 🗑
|
||||
show | HFr bacteria
🗑
|
||||
show | Conjugation
🗑
|
||||
show | F' Bacteria
🗑
|
||||
Uptake of DNA and incorporation into chromosome or plasmid -Naturally occurring – dead bacteria -Artificially introduced Competent – cells able to take up DNA | show 🗑
|
||||
bacteria that have incorporated foreign DNA | show 🗑
|
||||
Many strains are avirulent Small and rapid reproduction Easy to culture Genome is single chromosome - haploid Wild-type are prototrophic | show 🗑
|
||||
DNA or RNA (single or double stranded) as genetic material Can not reproduce on their own | show 🗑
|
||||
viral particles that infect bacteria | show 🗑
|
||||
show | Bacteriophage – lytic cycle
🗑
|
||||
show | Bacteriophages – lysogenic cycle
🗑
|
||||
show | Generalized Transduction
🗑
|
||||
Bacterial DNA is degraded Some may enter viral protein coat instead of viral genetic material Transducing phages Can become incorporated into new host’s genome | show 🗑
|
||||
Few genes are transferred/genes near certain sites of chromosome | show 🗑
|
||||
show | Transduction- Lysogenic cycle
🗑
|
||||
Single strand directly codes for viral proteins | show 🗑
|
||||
Must make complementary RNA strand, which then codes for proteins | show 🗑
|
||||
Incorporate into host genome Must make DNA from RNA Reverse transcriptase Makes cDNA from DNA or RNA template Enters host genome as a provirus Can be transcribed and translated Some retroviruses contain oncogenes Cause tumors | show 🗑
|
||||
Three common genes | show 🗑
|
||||
show | Metacentric
🗑
|
||||
Centromere is off center | show 🗑
|
||||
Centromere is close to one end p arm has satellites (knobs on stalks) | show 🗑
|
||||
Centromere is at one end Not present in humans | show 🗑
|
||||
show | Karyotype
🗑
|
||||
show | G banding
🗑
|
||||
show | C banding
🗑
|
||||
Stains G-C rich regions Gives opposite banding pattern of G banding | show 🗑
|
||||
show | Q banding
🗑
|
||||
Types of chromosome mutations | show 🗑
|
||||
Structure is altered | show 🗑
|
||||
show | Aneuploidy
🗑
|
||||
1 or more additional sets of chromosomes | show 🗑
|
||||
show | Duplications, Deletions, Inversions, Translocations
🗑
|
||||
Section of chromosome is doubled | show 🗑
|
||||
repeated segment is right after the original | show 🗑
|
||||
show | Displaced
🗑
|
||||
Sequence is inverted from the original sequence | show 🗑
|
||||
show | Duplications (Heterozygotes)
🗑
|
||||
loss of a portion of chromosome Large deletions can be seen cytogenetically; microdeletions by FISH If the deleted region includes the centromere, entire chromosome will be lost Usually lethal in homozygous form | show 🗑
|
||||
Normal chromosome must loop out during pairing Partial monosomy for all involved genes | show 🗑
|
||||
show | Deletions - heterozygotes
🗑
|
||||
show | Pseudodominance
🗑
|
||||
show | Haploinsufficiency
🗑
|
||||
Two breaks in chromosome, then flipped and reinserted | show 🗑
|
||||
show | Paracentric inversion
🗑
|
||||
Breaks on both arms; centromere is involved Can change morphology by altering centromere position | show 🗑
|
||||
Disruption of a gene – no functional product Position effect (Change in gene position can affect gene expression) | show 🗑
|
||||
show | Inversion loops
🗑
|
||||
If crossing over occurs within loop: Creates a dicentric chromosome and an acentric chromosome -Acentric is lost -Dicentric forms a dicentric bridge, and breaks -Nonviable recombinant gametes | show 🗑
|
||||
show | Pericentric inversion loops
🗑
|
||||
show | Translocations
🗑
|
||||
Segment moves from one chromosome to another | show 🗑
|
||||
show | Reciprocal Translocations
🗑
|
||||
show | Translocations Effects
🗑
|
||||
Between two acrocentric chromosomes (13, 14, 15, 21, 22) 2 q arms are joined at a common centromere (Forms a metacentric chromosome if two chromosomes are same size) Small fragment is usually lost (acentric) | show 🗑
|
||||
Named after the chromosome that is the origin of the centromere | show 🗑
|
||||
Have one normal copy of a chromosome, and one translocated one -During meiosis, all 4 chromosomes will associate -Can segregate 1 of 3 ways | show 🗑
|
||||
show | Translocation segregation (Alternate)
🗑
|
||||
Each pole gets one normal, and the opposite translocated Partial monosomies/partial trisomie (unbalanced) | show 🗑
|
||||
Each pole gets both the normal and translocated of the same chromosome (Inviable; rare) | show 🗑
|
||||
show | Fragile sites
🗑
|
||||
show | Aneuploidy
🗑
|
||||
-Nullisomy 2n – 2 – missing both members of a homologous pair -Monosomy 2n – 1 – missing one chromosome -Trisomy 2n + 1 – one extra chromosome -Tetrasomy – 2n + 2 – two extra chromosomes of the same type/homologous | show 🗑
|
||||
show | Aneuploidy
🗑
|
||||
-Primary 3 free copies of #21 -Familial Extra copy due to translocation | show 🗑
|
||||
show | Uniparental Disomy
🗑
|
||||
show | Mosaicism
🗑
|
||||
show | Polyploidy
🗑
|
||||
Extra set is from same species (attacking self) -Error in cell division Extra chromosome caused pairing problems; especially with odd numbers -3n usually sterile; produce small seeds | show 🗑
|
||||
Hybridization between two species AABBCC x GGHHII F1 generation ABCGHI – not homologous -Gametes are inviable, but may be able to reproduce asexually Nondisjunction error can lead 2x, which could then reproduce sexually | show 🗑
|
||||
DNA made up of 4 different nucleotides in equal amounts. DNA doesn’t have the variety needed for genetic material | show 🗑
|
||||
Consisted of DNA and protein | show 🗑
|
||||
show | 20
🗑
|
||||
A=T and G=C | show 🗑
|
||||
show | DNA because only DNase destroyed transforming substance
🗑
|
||||
Which part of the phage-its DNA or its protein-serves as the genetic material and is transmitted to phage progeny? | show 🗑
|
||||
show | Gives information on molecular structure
🗑
|
||||
WHat substance-RNA or protein- carries the genetic material in viruses? | show 🗑
|
||||
Carbon in sugar can be referred to as | show 🗑
|
||||
show | RNA -OH at 2'carbon (less stable)
🗑
|
||||
show | DNA (removing an oxygen) -H at 2' carbon
🗑
|
||||
show | Phosphate group
🗑
|
||||
Nitrogenous base | show 🗑
|
||||
two main types of Nitrogenous base | show 🗑
|
||||
Purine | show 🗑
|
||||
show | Adenine
Guanine
🗑
|
||||
show | Cytosine
Thymine (DNA only)
Uracil (RNA only)
🗑
|
||||
show | Pyridine
🗑
|
||||
RNA only | show 🗑
|
||||
show | thymine and deoxyribose
🗑
|
||||
show | base and sugar
🗑
|
||||
Nucleotide | show 🗑
|
||||
DNTP | show 🗑
|
||||
Nucleotides covalently bonded? | show 🗑
|
||||
show | 3'C of previous sugar
🗑
|
||||
Backbone consists of….. | show 🗑
|
||||
show | 2 antiparallel strands with bases in interior
Bases held together by hydrogen bonds
🗑
|
||||
show | Always has one 5′ end (phosphate) and one 3′ end (sugar –OH)
🗑
|
||||
show | Complementary base pairing??
🗑
|
||||
Base pairing | show 🗑
|
||||
show | Shape when plenty of water is present
Right hand/clockwise turn; approx 10 bases per turn
🗑
|
||||
A-DNA | show 🗑
|
||||
show | Left hand/counterclockwise turn
Approx 12 bases per turn (narrower)
Found in portions with specific base pair sequences (alternating G and C
🗑
|
||||
show | Replication, Transcription and translation
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Created by:
nenatweet24
Popular Genetics sets