Module 3
What does a horizontal line represent on a pedigree
Mating
Variations in DNA sequences with no known effect.
Silent Mutations
The goal of meiosis is to produce ___
What are haploid gametes?
An extra X chromosome on chromosome 47 (47, XXY) is associated with this syndrome
Bonus: what symptoms are associated with this syndrome?
What is Klinefelter syndrome?
Symptoms: tall stature, feminine physique, poor beard/chest hair growth, breast development, small testes
SNPs can be identified using this method
What is microarray analysis?
What does a double horizontal line on a pedigree represent?
Mating between relatives
This type of mutation has a high frequency of occurrence and can be used as DNA markers for a specific gene
What are SNPs?
Meiosis 1 is also known as _____
What is reductional division?
Trisomy 21 is associated with which disorder?
What is down syndrome?
When making a karyotype, this chemical is added to stimulate mitosis
What is phytohemagglutinin?
How are twins represented on a pedigree?
Two diagonal lines from the same origin.
Patterns of one or more nucleotides that are repeated are known as ...
What are VNTRs?
_____ results in gametes with incorrect number of chromosomes
What is nondisjunction?
Trisomy 13 is associated with which disorder?
Bonus: What are the symptoms associated with this disorder?
What is Patau syndrome?
Symptoms: severely mentally challenged, cleft palate, deaf, malformed organs
A sample of amniotic fluid can be taken during these weeks of pregnancy during amniocentesis, and during these weeks of pregnancy during CVS
14th-16th week for amniocentesis, and 8th-10th week for CVS
Two disorders that are found on the same gene (linked genes)
Colour Blindness and Hemophelia
PCR can be used to detect ____ in an individual, which makes up their unique genetic profile
What are VNTRs?
This law states that the manner in which homologous chromosomes align determines the genotype of resulting gametes
What is the law of independent assortment?
Trisomy 18 is associated with this disorder?
Bonus: what are the symptoms?
What is Edwards syndrome?
Symptoms: small newborn, webbed neck, receding chin, organ malformation
When making a karyotype, Colcemid is added to the culture to stop mitosis in this phase of mitosis
What is metaphase?
Bonus: why is this important?
Genes located adjacent to each other on a chromosome have a ____ recombination frequency than genes that are distantly associated with one another
lower
What symptoms would an individual with a HbA/HbS display? (Bonus: HbA/HbA and HbS/HbS)
Resilience to malaria, cells would look different no effect.
No difference
Shriveled RBC
By the end of telophase 1, each cell has ___ chromosomes
23
Missing an X chromosome on chromosome 47 (47, XO) is associated with this disorder
Bonus: what are the symptoms?
What is Turner syndrome?
Symptoms: short stature, webbed neck, shield-like chest, sterile
What is hypotonic?