Genetics
Genetics Knowledge Quiz
Test your understanding of genetic concepts with this comprehensive quiz! Covering a wide range of topics from uniparental disomy to mitochondrial inheritance, this quiz is designed for both students and professionals in the field of genetics.
Key Features:
- 103 detailed questions
- Multiple-choice format
- Assess your knowledge base in genetics
Uniparental disomy may be involved in the aetiology of the following disorders:
Angelmann Syndrome
Prader-Willi Syndrome
Fragile X Syndrome
Huntington chorea
Mendelian inheritance refers to the following:
Mitochondrial inheritance
Dynamic mutations
Y-linked, holandricinheritance
Genomic imprinting
If the gene structure is E1-L1-E2-L2-E3-L3-E4 and the mRNA E1-E2-E3, the slicing was:
Constitutive
Alternative
Shuffling
Trans-splicing
Neural tube defect:
May be related to maternal diabetes
May be suspected in the presence of aboral hair tufts or dimples
Can be prevented by folic acid administration
Affect 1/100 pregnancies
The LINE-1 sequences:
Have 500 bp in length
Contain the RT gene necessary for their transposition
Are involved in human disease causing spontaneous mutations
Are present in 500 copies in the human genome
Specific diet is recommended in:
Phenylketonuria
Achondroplasia
Familial hypercholesterolemia
Lysosomal storage diets
Muscle hypotonia at birth, mental retardation, morbid obesity, hypogonadism characterized by the following diseases:
Prader-Willi Syndrome
Angelmann Syndrome
Huntington chorea
Fragile X Syndrome
Duchenne muscle dystrophy:
Symptoms appear at birth
Muscle weakness begins in the lower limbs, symmetrically, it is progressive and ascending
The heart is not affected
Life expectancy is significantly reduced
BER mechanism targets:
Thymine dimers caused by UV light
Single base damages
Double strand breaks
Replication errors
The gene structure is E1-I1-E2-I2-E3 and the resulting mRNA structures are E1-E3-E2 and E1-E2-E3 the splicing mechanisms are:
Constitutive
Alternative
Exon shuffling
Trans-splicing
Substitution may have the following consequences:
Missense mutation with amino acid replacement
Non-missense mutation leading to a truncated protein
Frameshift mutation
Translocation of a fragment
In mitochondrial inheritance the following are not true:
The disease is transmitted by men to their sons
The disease is transmitted by men to their daughters
Variable expressivity is frequently seen
Tissues and organs most sensitive to energy deficiency are most severely affected
Genomic instability disorders caused by the inherited mutations of genes involved in DNA:
Are frequent
Are inherited X-linked
Association with UV sensitivity
Often associated with immune deficits
In hemochromatosis treatment includes:
Chest precursors and postural damage
Phlebotomy
Chelating agents
Novel drugs to improve CFTR trafficking, blocking, folding, function
The following are true concerning the genetic code:
Transitions may cause silent mutations
The STOP codons are AUG, UAA, UGAC
Unambiguity is the basis of recombinant DNA technology
Deletions cause frameshift mutations
The risk of inheritance in hereditary hemochromatosis in the children of two affected parents:
25%
50%
75%
100%
The risk of inheritance in Marfan syndrome for the children of two affected parents may be:
25%
50%
75%
100%
Wilson's disease:
Is more severe in women
Is an inborn error of copper metabolism
Associates with liver problems
Associates with a characteristic skin pigmentation
The following signs characterize FAS (fetal alcohol syndrome):
Macrocephaly
Small eye opening
Smooth philtrum
Full, thick lips
Angelman syndrome may be caused by:
Paternal deletion
Maternal deletion
Maternal uniparental disomy
Paternal uniparental disomy
Potter sequence with pulmonary hypoplasia may develop in:
Rett syndrome
Duchenne muscular dystrophy
Ataxia-teleangiectasia
Autosomal recessive polycystic kidney
Retro-transposons:
Are transposed as RNA
Are transposed as DNA
Do not cause mutations
Transposition leads to an increase of copy numbers
In autosomal recessive inheritance:
Is usually one of the parents is affected
Affected parents may have healthy children
The two sexes are equally affected
Consanguinity increases the risk of recurrence
The following characterize the B-DNA structure:
Right handed helix
Left handed helix
Diameter of approx. 3.4 nm
Diameter of approx. 2 nm
Neurofibromatosis type I:
Variable clinical expressivity is characterized
The frequency is low, 1:30000
Arachnodactyly develop
Numerous cafe au last spots are present
Diseases caused by dynamic mutations are:
Huntington's disease
Prader-Willi syndrome
Fragile X syndrome
Marfan syndrome
In hemophilia:
Type A affects 1:50000 in male newborns
Type B affects 1:5000 in male newborns
Type B is caused by coagulation factor IX-Christmas factor deficit
De novo mutations are frequent
In uniparental disomy:
Isodisomy is the inheritance of two identical copies of the same chromosome
Isodisomy appears due to an error in meiosis
Heterodisomy is the inheritance of two homologous chromosomes
Heterodisomy appreso due to an error in meiosis II
Two affected parents may have healthy children but only boys in the following inheritance mechanism:
AD
AR
HD-X
HR-X
Clinical manifestations characteristic for mitochondrial diseases are:
Fatigue, exercise intolerance
Hearing problems
Skin cancer
Increased bone fragility
Achondroplasia is produced by mutations in the gene encoding for:
Fibrilling
TGF-beta receptor
PCSK
FGFR3
Increased risks of cancer is associated with:
Ataxia-teleangiectasia
Ostogenesis imperfecta
Marfan syndrome
Xeroderma pigmentosum
Pre-transcriptional control mechanisms involves:
Histone methylation
DNA methylation
RNA editing
RNA interference
In teratogenesis the following are false:
Simultaneous exposure to various teratogens may cause exponential increase
Thin upper lip is a characteristic sign of FAS
Intracranial calcifications are frequent in fetal alcohol syndrome
Teratogens cause approx. 25% of the congenital I anomalies
Neonatal screening is done for:
Osteogenesis imperfecta
Phenylketonuria
Galactosemia
Familial hypercholesterolemia
Control of gene expression at the level of transcription:
Activators bind to silencer sequences
Repressors bind directly to the enhancer sequences
Co-activators mediate the binding of general transcription factors with activators
General transcription factors bind to promoter sequences
Vitamin D resistant hypophosphatemic rickets - X-linked hypophosphatemmia is characterized by:
Hearing impairment
Short stature, leg bowing
Waddling gait
Blue sclera
The following types of congenital anomalies are usually secondary abnormalities...?
Dysplasia
Disruptions
Deformations
Malformations
Familial hypercholesterolemia is characterized by:
Disproportionate dwarfism
Xanthoma
Increased chloride level in the sweat
Xanthelasma
Following mechanisms prevent or correct replication errors:
3'-5' activity of certain DNA polymerases
BER
MMR
NER
The two most frequent monogenic disorders are:
Neurofibromatosis
Hematochromatosis
Osteogenesis imperfecta
Hemophilia
Consanguinity increases the risk of recurrence in:
AR inheritance
Y-linked inheritance
None of the answers is correct
Polygenic inheritance
The differences between axons and introns are as follows:
Exons are found only in precursor messenger RNA
Introns are found only in mature messenger RNA
The number of exons is higher than of introns
The size of the introns is usually bigger
DNA mutations are characterized by:
It is characterized by maternal transmission
MtDNA mutation are repaired through the MMR system
They occur more frequently than nuclear mutations
They are repaired through th nuclear DNA repair mechanisms
About DNA repair are true:
They allow the repair of mtDNA damage
Is an enzymatic process
Correlated with mechanism controlling cell cycle progression
Does not require DNA damage recognition
In multifactorial disorders the recurrence risk decreases:
In consanguineous marriages
Decreases as the degree of kinship increases
With the decrease of the number of affected persons
For relatives of the less commonly affected sex
Familial hypophosphatemic rickets is characterized by:
X-linked recessive pattern of inheritance
The clinical sign/phenotype appear lately and are represented by long legs, gigantism
Craniotabes and teeth anomalies are present
Enlarged pulp chambers may be found
The following statements about anhydrotic ectodermal dysplasia are false:
Hand, legs malformation
Has a heterosomal dominant linked pattern of inheritance
Is characterized by the malformation of ectodermal structures such as skin, hair, teeth, and sweat glands
Dry skin and space hair
Clinical features of Familial hypophosphatemic rickets are:
Moderate growth deficiency
Delays in eruption of teeth
Gingival hyperplasia
Intellectual disability
The following statements about single nucleotide polymorphisms are false:
Usually are localized in coding region
All single nucleotide polymorphisms have a pathogenic effect
Most of them are localized in non-coding region
Are represented by substitution of a single nucleotide
The following syndromes are not characterized by a X-linked pattern inheritance:
Treacher-Collins syndrome
Mucopolyssacharidoses types 1
Oral-facial-digital syndrome
Familial hypophosphatemic rickets
Clinical features of neurofibromatosis type 1 are:
Arachnodactilia
Neurofibromas
Bone fragility with fractures after minor trauma
Cafe au last spots
Telomerase:
May be reactivated in cancer cells
Affects telomere stability and stimulate cell proliferation
Will add "de novo" polynucleotide (AGGGTG)
It is active postnatal
Introns:
Are localized in lateral sequences of the gene
Are localized in promotor sequence
Contain sequences with role in gene regulation
Are transcribed into mRNA precursor and then removed from the mature mRNA
Central (coding) region of the gene:
Contains exons
Completely transcribed
Contains promotor
Contains 7-methylguanosine (the cap)
Splicing represents:
Removal of introns
Removal of exons
Precursor mRNA processing
Modifications of mRNA extremities
Epigenetic control (transcriptional control) of gene expression is represented by:
DNA methylation
Histone modification
RNA interference
Alternative splicing
The following statements are true about mitochondrial DNA:
Has no non-coding intergenic sequences
Is a circular molecule
Is localized in nucleus
Is single-stranded
The following statements about nucleotide substitutions are false:
Replacement of a single base pair
May be represented by transition
Are represented by amplification of trinucleotide repeats
Is the most rare type of mutation
Minor congenital anomalies may be consider:
Cleft palate
High arched palate, epicantus
Anencephaly
Congenital heart defects
The following are true about the genetic code, except:
Comma-less code
Mutations induce no errors in the reading frame
Genetic code is frozen
Genetic code is non-ambiguous
Characteristic for replication is:
Conservative
Synchrony
Semi-discontinuous
Strands are replicated in one direction
About the promotor are false:
Has a role in the initiation of transcription
Contains regions which bind transcription
Is not transcribed
Represents 3' lateral region
About embryopathia is true:
Occurs when the terotgen act on the embryo during the 1st semester of pregnancy
Occurs when teratogens act in the last 8 weeks of pregnancy
Are represented by deformation
Are represented by disruption
Renaturation involves:
Breakage of hydrogen bond
Formation of hydrogen bonds between complimentary DNA
Reassossiation of two single-strand DNA molecules
Chemical denaturator
Secondary DNA structure:
Double helix to left
Respects complimentary law
Single DNA strand
Hydrogen bonds
Components of translation:
Represented by mRNA, ribosomes, tRNA, enzymes, specific co-factor, energy
Copies genetic info of a gene into pre-mRNA molecule
Involved in protein synthesis
Present in nucleus
Falso about DNA molecule:
Molecule diameter is 2nm
DNA strand has a 3'-5' polarity
Z-DNA form is the most common
About no base pairs at each turn
In Duchennes muscle dystrophy:
Skin lesions
Kaysser-Fleischer ring
Electromyography rivals a myogenic pathway
60-70% of cases are caused by denaturation of DMD gene
Genetic code:
Is not universal
Has one start codon and one stop codon
It's a triplet, degenerative,...
Non-ambiguous
Autosomal recessive inheritance characteristics following diseases:
Haemophilia type A
Marfan syndrome
Phenylketonuria
Hemochromatosis
X-linked recessive inheritance presents characteristics of following disorders:
Colour with deficiency
MPS I
Marfan syndrome
Haemophilia type B
Following statements about germline mutations is true:
Are represented by mitosis error
Are transmitted to offspring
Some gametes may have a mutation (germline mutation)
Represented by somatic errors
3rd level of DNA condensation:
Looped domains 300 nm in diameter
Represented by looped domains
Represented in nucleosome
Result from spiraling of the nucleosome into solenoids
True statements:
Ozaki fragments are formed on lagging strand and attached during DNA transcription
DNA ligase separate strands of DNA molecule into 2 single strands
Euchromatin is the active (transcriptive) part of chromatin
Polynucleotide strands of DNA molecule are parallel
True statements:
Epigenetic mutations change DNA sequence
Methylation regulates the expression of either the maternal or paternal alleles of certain genes at the start of development
Gene activation is associated with DNA methylation
In case of post-translational, regulation, newly polypeptides (produced after translation) undergo further processing
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