What is the gene and chromosome number for Cystic Fibrosis?
CFTR gene chromosome 7
DMPK gene 19q
ZNF9 3q
The term for the phenomenon when not all individuals with a specific gene variant express the associated trait.
Penetrance
what are the 3 types of cloning techniques
Recombinant DNA therapy (gene cloning)
Reproductive
Therapeutic cloning (embryonic cloning)
What disease is trisomy 21 and write out the karyotype for female.
Down Syndrome
47 XX + 21
Name the 5 hereditary thrombophilias
Factor 5 Leiden
Prothrombin
Antithrombin
Protein C
Protein S
What are the genes and respective chromosomes for Osteogenesis Imperfecta?
COL1A1 17 & COL1A2 7
The term describing how maternal and paternal alleles can be expressed unequally, depending on the parent of origin.
Genomic imprinting
Questions for recognizing a possible genetic role.
FamilyGENES
groups of anomalies
early or extreme presentations of common disease
neurodevelopmental or neurodegenerative conditions
exceptional or unusual pathology
surprising lab values
what does the nonsense mutation change the codon to do?
STOP
25%
If you ordered an MRI for a patient and it came back showing caudate atrophy, which disease do they have and is it autosomal recessive or dominant?
Huntington's disease, dominant
What are the stop and start codes?
Stop: UAA
insulin
interferon
human growth hormone
clotting factor 8
tissue plasminogen activator
recessive
What is the chromosome for sickle cell?
11p
Lisch nodules & Optic gliomas are examples of what disease?
Neurofibromatosis
What two diseases are examples of genomic imprinting?
Prader Willi and Angelman syndrome
what type of cloning was dolly an example of?
reproductive cloning
what are the 3 mutation repair mechanisms
damage reversal
damage removal
damage tolerance
what are the 2 lysosomal storage disorders & their genes?
Tay Sachs - HEXA
Niemann Pickman - SMPD1 and NPC1 & NPC2
Define xanthomas and what disease is it associated with?
Excessive cholesterol deposits causing visible or palpable bumps
Familial hypercholesterolemia
The most numerous type of polymorphism in humans
(SNPs) Single Nucleotide Polymorphisms
15-17 weeks
wilms tumor
anridia
genitourinary abnormalities
mental retardation