GENETICS Flashcards
What are the autosomal recessive diseases? (12)
- Albinism
- autosomal recessive polycystic kidney disease (ARPKD)
- cystic fibrosis
- glycogen storage diseases
- hemochromatosis
- Kartagener syndrome
- mucopolysaccharidoses (except Hunter syndrome)
- phenylketonuria
- sickle cell anemia
10.sphingolipidoses (except Fabry disease) - thalassemias
- Wilson disease.
13 . Classical galactosemia
What are the X-linked recessive disorders? Oblivious Female Will Often Give Her Boys Her x-Linked Disorders
Ornithine transcarbamylase deficiency Fabry disease Wiskott-Aldrich syndrome Ocular albinism G6PD deficiency Hunter Syndrome Bruton agammaglobulinemia Hemophilia A and B Lesch-Nyhan syndrome Duchenne (and Becker) muscular dystrophy
What are the autosomal dominant diseases?(13)
- Autosomal dominant polycystic kidney disease (ADPKD)
- Familial adenomatous polyposis
- Familial hypercholesterolemia
- Hereditary hemorrhagic telangiectasia
- Hereditary spherocytosis
- Huntington disease
- Li-Fraumeni syndrome
- Marfan syndrome
- Multiple endocrine neoplasias (MEN)
- Neurofibromatosis type 1 (von Recklinghausen disease)
- Neurofibromatosis type 2
- Tuberous sclerosis
- von Hippel-Lindau disease
- Achondroplasia
What are the Trinucleotide repeat expansion diseases?(4)
Fragile X syndrome = (CGG)n.
Friedreich ataxia = (GAA)n.
Huntington disease = (CAG)n.
Myotonic dystrophy = (CTG)n.
Mechanism of actions of anti tuberculous drugs RIP?
Rifampicin 🚫RNA polymerase 🚫RNAm synthesis
Isoniazid 🚫 synthesis mycolic acid
Pirazinamide 🚫 fatty acid synthetase I
What are the Chromosomal disorders?
3………von Hippel-Lindau disease, renal cell carcinoma
4 ………ADPKD with PKD2 defect, Huntington disease
5……… Cri-du-chat syndrome, familial adenomatous polyposis
7 ………Williams syndrome, cystic fibrosis
9……… Friedreich ataxia
11……..Wilms tumor
13…….. Patau syndrome, Wilson disease, RB tumor suppressor
15…….. Prader-Willi syndrome, Angelman syndrome
16…….. ADPKD with PKD1 defect
17…….. Neurofibromatosis type 1
18…….. Edwards syndrome
21…….. Down syndrome
22…….. Neurofibromatosis type 2, DiGeorge syndrome (22q11)
X………..Fragile X syndrome, X-linked agammaglobulinemia, Klinefelter syndrome (XXY)j
Which meiosis step is implicated in klinefelter, turner and XYY syndromes?
Klinefelter 47XXY🔹 MEIOSIS I nondisjunction
Turner 45XO🔹MEIOSIS I nondisjunction
XYY syndrome🔹 MEIOSIS II nondisjunction
What are the inhibitors of reverse-tanscriptase? (2) (4,2)
NUCLEOSIDE zidovudine Didanozine Lamivudine Emtricitabine
NON NUCLEOSIDE (non myelosupressant)
Nevirapine
Efavirenz
Principal clinical features of Prader-Willi syndrome? (5) an IMPRINTING PHENOMENON
Short stature Small hands and feet HYPERPHAGIA OBESITY dismorphic facial features Mental retardation
What are the clinical features of Angelman syndrome? (3) an IMPRINTING PHENOMENON
Ataxic puppet-like gait
Tendency to SMILE 😀
Percentage of penetrance of Fragile X syndrome in men and women?
Men 100%
Women 60%
What’s locus heterogeneity?
Same disease cause by mutations in different gene loci
OSTEOGENESIS IMPERFECTA !!!
What’s the hardy-Weinberg equilibrium ecuation?
p² + 2pq + q² = 1
p + q = 1
p² =AA Dominant Homozygous
2pq=Aa Heterozygous
q² = aa Recessive Homozygous SICK!!!!
What’s linkage dysequilibrium ?
When the muted gene have to be secreted whit other nearby gene
What’s gene flow ?
Gene exchange between different populations
What’s genetic Drift?
Change in gene frequency due to finite population size
What’s natural selection genes?
Increase or decrease in particular gene frequency due to its effects in survival and fertility
When there is linkage disequilibrium?
When two deferents loci tends to be together
A : 0.3
B: 0.2
So A-B would be 0.3 X 0.2 =0.06
BUT THE REALITY IS A-B =O.2. Is a linkage disequilibrium
What the law of segregation means?
Gametogenesis results in separation of paired chromosomes so the offspring will inherit only half of each parent genes
What’s conservative mutation?
Specific type of missense mutation
The new a.a. Has similar characteristics with the normal a.a.
So this protein works well
What’s conservative mutation?
Specific type of missense mutation
The new a.a. Has similar characteristics with the normal a.a.
So this protein works well
What is the most common fatal genetic disease among caucassians?
CYSTIC FIBROSIS!!!
Explain the illness produced by bcr-abl,ras, Erb-B2, N-myc.
bcr-abl (Philadelphia chromosome) CML
Ras A LOT OF CANCER
Erb-B2 tyrosine kinase related whit epidermal grow factor receptor BREAST OVARIAN
N-myc neuroblastoma
what cardiac anomalies are related with DiGeorge syndrome?(3) and genetic cause?
Tetralogy of fallot!!!!
Truncus arteriosus
Interrupted aortic arch
MICRODELECTION 22q11,2
conditions with polygenic inheritance? (7)
androgenic alopecia epilepsy glaucoma hypertension ischemic heart disease schizophrenia Type II diabetes
What processes are necessary to pos-transcriptional modification? (3) to produce mature mRNA
5’ capping
Polyadenylation poly-A tail
Splicing
Telomeres synthesized by telomerase are rich in…
TTAGGG
Principal features of Williams syndrome?(3)
Elfin facies
Supra valvular aortic stenosis
Extroverted personality
What is epistasis?
The allele in one gene affects the phenotypic expression of alleles in another gene
cause of mitochondrial myopathy?
mitocondrial mutation
deficit of oxidative phosphorilation
affect principally brain and muscles
Important genetic disease caused by frameshift mutation?
FAMILIAR HYPERCHOLESTERONEMIA!!!!
What is characteristic in mithocondrial inheritance disease?
Epilepsy ➕ myopathy
Encephalopathy ➕lactic acidosis
What’s microarray?
Hybridization of a large number of probes at once using a gene chip
What are homebox?
Genes which code for TRANSCRIPTIONAL FACTORS of genes involve in the segmental organization of the EMBRYO
Cause of fragile X syndrome?
Hyper methylation of CGG repeats in the long arm of the X chromosome
What is are the unique segments which have RNA strain and DNA strain?(2)
PRIMERS
TELOMERES
what is heteroplasmy?
Having different mitochondial genomes in a single cell
severity of disease is related with how many abnormal mithocondrias do you have
diference between promoters and enhancers?
Promoters : binds general transcriptor factors and RNA polymerase II
- TATA 25 bp upstream
- CAAT 70-80 bp upstream
Enhancers: (like silencers)
facilitate bendding DNA
upstream - downstream or within introns
Which hereditary illnes show anticipation?(4)
- Huntingtong
- Friederich ataxia
- Fragile x
- myotonic dystrophy
Process by X chromosome get condensated?
Lyonization
Clinical features of DiGeorge syndrome? CATCH
Conotruncal cardiac defects Abnormal facies Thymic Aplasia Cleft palate Hypocalcemia
Difference among allelic heterogeneity , genetic heterogeneity and phenotypic heterogeneity?
allelic heterogeneity different mutations at the same loci cause similar phenotype
genetic heterogeneity mutation at the different loci cause similar phenotype
phenotypic heterogeneity mutations at the same gene cause different phenotypes
