The Stuff
What are the phases of Mitosis?
Prophase, Metaphase, Anaphase and Telophase
Name the structure that is part of the intermediate mesoderm and contains undifferentiated germ cells.
Bonus: (1pt) What is the correct term for undifferentiated germ cells?
Genital ridge
Bonus: pirmodial cells
Mobius syndrome usually affects what nerve?
facial nerve ; Cranial Nerve 7
What are the two purine bases in DNA and how many rings do they contain in their chemical structure
Adenosine and Guanine. 2 rings
Is the P arm the short arm of the chromosome or long arm?
short arm
Which cell cycle phase is identical to mitosis?
Meiosis 2
What is required for testes formation and if there is presence of this gene on an XX patient then it develops as a MALE?
SOX9
:If the Iris does not form, what disease would you call this?
Coloboma
What type of bonds occur between G-C and A-T base pairs?
Hydrogen bonds
Why is the chiasmata important?
enables recombination and crossing over of chromosomes
In DNA, what are the purines?
Adenine and Guanine
Briefly describe what is the Lyon Hypothesis?
Random inactivation of one x chromosome
Your patient has a small, upturned nose, long upper lip length, small chin, is overtly friendly and has learning disabilities. From what you have learned so far what would be your diagnosis?
Williams Syndrome (Microdeletion of 7q.11.23)
Mullis was able to amplify gene expression by the addition of what?
Polymerase
A gene is methylated... what does that mean?
It is not expressed
Part 1: What is a variation in a single base pair in DNA sequence ?
Part 2 : Name the 2 types of non-synonymous consequences.
Single Nucleotide polymorphisms (SNP)
Missense and Nonsense
What will happen to the placenta if two paternal genomes are used (Adrenogentic)?
Enlarged placenta
If SHH (Sonic Hedge Hog) expression is too high, what will the result be for the baby?
Diprosopus → craniofacial duplication
This individual has a chromosomal abnormality. What chromosome is affected and what is abnormal about it?
XXY chromosomes-couldn't put picture sorry:(
Bonus: if this individual’s genotype is XXXY, how many Barr bodies do they have?
Klinefelter's Syndrome - more than one X chromosome in a male. The more X chromosomes, the more severe the deficiency.
Bonus: 2
Genes that are mobile elements that can be inserted and cause diseases
Bonus: T/F anytime genetic material is deleted or duplicated, there is phenotypic manifestations
Transposons Bonus: F
In gene expression, what do you call a gene that is only transcribed when needed? The same way you only go to lecture when you need to. JK
Facultative Gene
What is the cause of numeric aberrations in chromosomes ?
Nondisjunction
Melanocortin-1 receptor is responsible for making you a redhead. What would happen if its mutated?
alters their response to analgesics. (they need more)
Which SNP is responsible for Breast cancer?
BRCA 1/2
What is only transmitted via mitochondrial DNA and usually causes defect in oxidative phosphorylation
Super Bonus (2 points) : Tell us 3 facts about this method of genetic transfer.
Mitochondrial Inheritance
Facts: -passed from mother to offspring
-males and females affected equally
-all offspring of an affected mother will be affected -usually all diseases are neuropathies/myopathies