Genetics Block 4
Card Set Information
Genetics Block 4
Genetics Block 4
Fetal retinoid syndrome is caused by?
isotretinoin( retinoic acid )
*Thalidomide syndrome causes what?
Thalidomide was used as what?
Accutane is also known as?
Development is controlled by?
What is responsible for the decrease in plasticity of cells?
Isotretinoin is also known as?
Ability to compensate for loss or injury of cells is called?
Ability to compensate for loss or injury of cells is seen when?
during early embryogenesis
Inability to compensate for loss or injury of cells is seen in what type of development?
Natural reprogramming is seen in what organism?
What are the 3 axis?
What type of genes in development have homeodomains?
What genes regulate mophogenesis?
3' hox genes code for what part of the embryo?
5' hox genes code for what part of the embryo?
Mutation in HoxD13 causes what?
What is the human homolog of hedgehog?
What morphogen induces formation of floor plate?
sonic hedge hog
What secretes hedgehog?
What is responsible for different expressivity in defects of hedgehog signaling?
concentration of the morphogen
What is lissencephaly?
Miller-Dicker Syndrome is caused by a mutation of what gene?
Defective cell migration results in what 2 syndromes?
Loss of PAX3 leads to what syndrome?
What is heterochromatic Irides?
2 different colored eyes
DiGeorge syndrome is caused by a deletion of what gene?
Tbx4 gene codes for what?
Tbx5 codes for what?
What are the defects caused by a 22q11 deletion?
hypocalcemia--due to parathyroid aplasia
What is the HLA haplotype associated with DM1?
HLA-DR3 and 4
What is the HLA haplotype associated with Ankylosing Spondylosis?
What is AGE?
Advanved glycosylated end product
Insulin has what type of a disulfide bond?
taking a cell out of an embryo and testing for a condition
cells have high plasticity so the fetus is not affected
When is amniocentesis performed?
at 16th week
How is gestation period determined?
from the last menstrual cycle
What protein is used to screen for neural tube defects?
3 types of ?
In what conditions is alpha-fetoprotein increased?
neural tube defects
What is responsible for nuchal translusency?
symptomatic of Down Syndrome
What are the 4 markers that are sampled in second trimester?
Free Beta Hcg
In what disorder is Inhibin A elevated?
What are the 3 markers sampled in first trimester?
Free beta hCG
What is used to determine fetal age?
How can Nuchal Translucency be detected?
What TF is used for proximal limb?
What TF is used for hindlimb?
What finds are seen in ch 22 q11 deletion?
What technique is used to look at embryo's genome during invitro fertilization
In order to be called true mosaicism what must be present?
multiple colonies from several primary cultures
How would pseudomosaicism present?
a single unusual Cell
Methylmalonic aciduria is seen in what catabolic pathway?
Odd chain FA degradation
What are the advantages of placental cord blood transplantation over bone marrow transplantation?
low risk of graft vs host disease
widely available..from relatives
What is the option of treatment of cystic fibrosis and alpha one antitrypsin deficiency?
Gene therapy is used in what types of cell lines?
NOT GERM Cells
What is the difference between cDNA and Genomic DNA?
cDNA only mRNA only exons
Genomic DNA---mRNA---i.e...exons plus introns
What are the two ways of introducing genes?
What removes a gene from a persons DNA?
What condtitions could be caused by transposons?
Duchene muscular dystrophy
In gene therapy what is the gene targeted in?
Hemophilia A--factor 8
Hemophilia B--Factor 9
Familial hypercholesterolemia---LDL receptor
Alpha one antitrypsin--alpha one antitrypsin gene
Duchenne Muscular Dystrophy--dystrophin gene
What drug should be prohibited in Porphyria?
Penicilamine is used to treat what conditon?
What is accumulated in Refsum's disease?
Refsum's disease is caused by a deficiency of what enzyme?
HbF is advantageous in what condition?
Antagonists of tumor suppressors are ?
What are 6 tumor suppressor genes?
Tumor suppressors usually require how many mutations to become oncogenes?
What is lost in tumor suppressor genes?
Pre-replicative damage is accomplished by what protein?
What does p53 do?
allows for transcription of p21
What tumor suppressor is located on ch 13?
A proapoptotic gene?
What occurs in a person that inherits a defective retinoblastoma in order for the person to get retinoblastoma?
the person gets a mutation on the other gene
What inactivates E2F?
Normally Rb is bound to what?
Li-Fraumeni is inherited in what fashion?
p53 is located on what chromosome?
What is the mode of action of p53?
p53 binds to damaged DNA
induces p21 transcription
p21 inhibits activity of cdk2
What are the the functions of p53?
stops G1-S progression
NF1 is found on what chromosome?
In order for Ras to be active it needs to bind what?
2 genes involved in breast cancer?
What are the genes located on chromosome 17?
DSB is done in what 3 ways?
Familial Adenomatous Polyposis is inherited in what fashion?
HNPCC are caused by what genes?
MLH1, MSH2 are involved in what type of repair?
Hypermethylating does what to genes?
shuts down transcription
What is the hall mark of reduced penetrance?
p53 check point in G1/S checks for what?
pre-replicative DNA damage
What are the 2 functions of p53?
Lish nodules and cafe au leit spots are characteristic of what condition?
What genes of importance are located on ch 17?
p53, NF1, BRCA1
What genes of importance are located on chromosome 13?
BRCA involved in what kind of repair mechanism?
Double strand break
What keeps beta catenin under control?
Aflotoxin B1 is produced by what?
Aspergillus Flavus Oryzae
Treatment for Urea cycle disorder?
When is chorionic villi sampling performed?
Epstein-Barr virus causes what cancer in african children?
Pregnancy at what maternal age is the risk of fetal abnormalitites equal to the risk posed by performing amniocentesis?
Alpha feto protein are obtained by what two routes?
When is amniocentesis and chorionic villi sampling performed respectively?
chorionic villus sampling--->10th week
What is cordiocentesis?
sampling of umbilical cord blood
When are chorionic villus sampling, amniocentesis, cordiocentesis performed?
chorionic villus samling--10th week
cordiocentesis--20 th week
What is used to test for open NTD?
maternal serum Alpha feto-protein
What marker is increased in all aneuploidies?
In what trisomy is hCG increased?
Pregnancy-associated plasma protein (PAPP) is depressed in which aneuplodies?
all of them
hcG is depressed in all aneuploidies except what?
Inhibin A is depressed in all trisomies except what?
Alpha feto protein is elevated in what condition?
What are two amniotic markers elevated for Down Syndrome?
human chorionic gonadotropin
Which procedure allows for biochemical analysis for metabolic diseases?
chorionic villi sampling
Malformations are caused by what kind of factors?
during 1st trimester
Dysformations are caused when?
during second trimester
Disruptions result from what?
destruction of normal fetal tissue
Pax6 is a TF needed for the development of what?
DiGeorge syndrome is caused by the deletion of what gene?
What is Lissencephaly?
What is it caused by?
Accompanies what syndrome?
failed cell migration
PAX3 is involved in what syndrome?
What are the symptoms?
Hirshsprung disease involves what gene?
Hirshsprung disease results from faulty migration of what type of cells?
neural crest----absence of parasympathetic ganglions
What gradient establishes the anterio-posterior axis?
Fetal retinoid syndrome is caused by what?
use of isotretinoin
Thalidomide causes what kind of birth defects?
Epiblast of the inner cell mass will become what?
Hypoblast of the inner cell mass will become what?
Ability to compensate for loss of cells is called what type of development?
Patterning involves what genes?
Hox genes code for what?
TF for lower limbs
TF for upper limbs?
Greig-cephalopolysyndactyly is caused by what gene?
Rubestein-Taybi syndrome is caused by what?
Most animal cell proliferation is regulated at what stage?
What cells are controlled in G2 phase?
MCM bind where?
origin of replication
Mutation in ATM causes what?
Double stranded breaks are recognized by what ?
p21 inhibits what CDK and cyclin?
What factors stimulate the synthesis of cyclin D?
What inhibits bcl2/bclx and activates bax and bak?
in the apoptotic pathway what activates puma, noxa?
In the FAS induced apoptotic pathway, what activates bax?
Normally bcl-2 is bound to what?
Puma/Noxa binds to what? releasing bax?
What repairs double strand breaks?
What genes play a role in regulating estrogen and androgen receptors?
What syndrome is produced by a microdeletion of the p arm of chromosome 5?
What is the only condition which has been treated by gene therapy?
Patients with retinoblastoma are at risk for developing what?
Blood transfusions in thalasemia may produce what adverse effect?
Ornithine Transcarbamoylase deficiency is treated with what?
How is familiar hypercholeserolemia treated?
by introducing bile acid binding agents
Phlebotomy is used to treat what?
Peniciliamine is used to treat what condition?
copper accumulation if Wilson's disease
Treatment for gout?
What is used to prevent the degradatio of the defective CFTR protein in mice?
PEG helps to improve symptoms of what ?
adenosine deaminase deficiency
How is Gaucher's disease treated??
by targeting glucosyl ceramidase to lysosomes where it is deficient
How are premature stop codons treated?
by incorporating tyrosine and allowing for translation to continue
In what disease are stop codons treated by gentamycin?
What condition is treated by increasing gene expression?
Decitabine (Cytidine analog) treats Sickle cell how?
by promoting the the production of HbF which impedes polymerization of Hbs
RNAi is used to degrade RNA that synthesizes long polyglutamine tract in what condition?
When are cancers occuring at an earlier age, bilateral and multiple?
When they are hereditary
What oncogene causes Hereditary Papillary Renal Carcinoma?
What causes Mutliple Endocrine Adenomatousus?
RET and MET are both what?
tyrosine receptor kinases
What tumor suppressor gene is involved in Li Fraumeni cancer?
What is the 2 hit hypothesis of cancer?
both alleles need to be mutated in order to get a tumor
What are 3 gate keepers who are tumor suppressors gene?
Loss of what gene leads to accumulation of beta catenin and its inducing of cell division?
MLH1 and MSH2 participate in what?
DNA mismatch repair
What 2 conditions are caused by a faulty nucleotide excision repair system?
Loss of function of Ras mediated apoptosis leads to what condition?
Aflotoxin causes mutation of what tumor suppressor?
Type II hypercholesterolemia is caused by a mutation on what gene?
The gene for Friedrich's Ataxia is located on what chromosome?
The gene for Myotonic Dystrophy is located on what chromosome?