past papers

the next generation sequencing technology was a prerequisite of the results of the human genome project

?

Association test A. MISSENSE MUTATION B. NONCENCE MUTATION C. SILENCE MUTATION D. AL OF THEM E. NONE OF THEM POINT MUTATION

A. MISSENCE MUTATION B. NONCENCE MUTATION

Association test A. MITOCHONDRIAL genome B. NUCLEAR GENOME C. BOTH D. NONE MATERNAL INHERETANCE IS A CHARACTERISTIC OF THIS TYPE OF GENOME

A. MITOCHONDRIAL GENOME

Characteristic for the Gene-families are: A. HAVE THE SAME OR VERY SIMILAR FUNCTION B. MAY OCCUR SCATTERED THROUGHOUT THE GENOME C. BOTH D. NONE

A. have the same or very similar function

Association test A. MITOCHONDRIAL genome B. NUCLEAR GENOME C. BOTH D. NONE APPROXIMATELY 66% OF THIS TYPE OF GENOME IS PROTEIN CODING DNA

A. mitochondrial genome

WHICH STATMENT IS CORRECT TO RARE DISEASES? A. MORE THAN 6000 RARE DISEASES AFFECT HUMANKIND B. MORE THAN A 1000 RARE DISEASES HAVE PHARMACOTHERAPY(?) C. RARE DISEASES GENERALLY DO NOT HAVE GENETIC BACKGROUND(?) D. ALL OF THEM

A. more then 6000 rare diseases affect humankind The Challenge of Rare Diseases More than 6,000 rare diseases affect humankind Less than 200 have any pharmacotherapy available

in which year began and ended the human genome project: a. 1995-2005 b. 1995-2003 c. 2000-2003 d. 1998-2005

B. 1995-2000

Association test A. MISSENSE MUTATION B. NONCENCE MUTATION C. SILENCE MUTATION D. AL OF THEM E. NONE OF THEM LEADS TO STOP

B. NONCENCE MUTATION

Association test A. MITOCHONDRIAL genome B. NUCLEAR GENOME C. BOTH D. NONE CONTAINS INTRONS

B. NUCLEAR GENOME

Association test A. MITOCHONDRIAL genome B. NUCLEAR GENOME C. BOTH D. NONE IT CONTAINS ANY REPETATIV SEQUENCES

B. NUCLEAR GENOME

Association test A. MITOCHONDRIAL genome B. NUCLEAR GENOME C. BOTH D. NONE PSEUDOGENES ARE THE MEMBERS OF THIS TYPE OF GENOME

B. NUCLEAR GENOME

in multifactorial diseases : A. only the environmental factors matter B. more than one organ system are affected C. only one organ system is affected

B. more then one organ system

Association test A. MISSENSE MUTATION B. NONCENCE MUTATION C. SILENCE MUTATION D. AL OF THEM E. NONE OF THEM CODE FOR THE SAME AMINO ACID

C. SILENT MUTATION

Aims of the human genome project: A. EXPLORATION OF THE WHOLE HUMAN DNA sequence B. COMPARATIVE GENOMICS C. BOTH D. NONE

C. both ? -Aims of the project: - to identify the approximate 100,000 genes in the human DNA. - determine the sequences of the 3 billion bases that make up human DNA. - store this information in databases. - develop tools for data analysis. - address the ethical, legal, and social issues that arise from genome research.

the direction of "information flow" according to the central dogma is : A. RNA--> DNA --> PROTEIN B. PROTEIN --> RNA --> DNA C. RNA--> PROTEIN--> DNA D. DNA--> RNA --> PROTEIN

D. DNA--> RNA --> PROTEIN Central dogma of molecular biology DNA --> RNA --> PROTEIN genome --> transcriptome --> proteome 30,000 genes 15,000 transcripts/cell. >>15,000 proteins/cell

Association test A. MISSENSE MUTATION B. NONCENCE MUTATION C. SILENCE MUTATION D. AL OF THEM E. NONE OF THEM TRANSVERSION OR TRANSITION

E. NON OF THEM Basepair substitution May or may not alter the sequence of the encoded protein Transition: replacement of purine base (A,G) with another purine base, or a pyrimidine base (C,T) with another pyrimidine Transversion: replacement of purine with an another pyrimidine

the mitochondrial genome does not code proteins

False codes for 13 proteins

true or false the human genome project had ethical aspects as well

TRUE

what is characteristic for the centromeres: a: gen poor segment b:gene rich segment c: gene free segment d: contains only repetitive DNA elements

a: gen poor segment

What does the mitochondrial DNA contain? 1. elements of the NADH dehydrogenase 2. elements of the cytochromesome 3. replication origo 4. gene trypsin A. 1 and 2 B. 1 and 3 C. 1,2,3 D all of them

d all of them Replication origo: different location on each strand -L strand: DNA synthesis with a clockwise direction -H strand: counterclockwise direction

transition: replacement of purine with a pyrimidine

false Basepair substitution - May or may not alter the sequence of the encoded protein Transition: replacement of purine base (A,G) with another purine base, or a pyrimidine base (C,T) with another pyrimidine Transversion: replacement of purine with an another pyrimidine Transitions are more common than transversions

the personalized medicine can be applied only in treatment of cancer

false Definition of Personalized Medicine •Personalized medicine is the use of information from a patient's genotype to: prevent the development of a disease or condition select the most appropriate therapy for a disease or condition SUITED FOR THE PATIENT

the aim of ENCODE project was to determine the sequences of bases that make up the human DNA

false ENCODE: Encyclopedia Of DNA Elements -International research consortium funded by US National Human Genome Research Institute (NHGRI, Bethesda, MD) -Goal: find all functional elements in the human genome

frameshift mutation can occur only due to insertion

false Frameshift mutations Insertion or deletion of a single base can change the open reading frame (ORF) → resulting in a completely different translation from the original

the c-group of chromosomes includes the autosomes 6-12 and chromosome Y

false Group C (chromosomes 6 to 12, and X) Group C is composed of middle-sized chromosomes, comprising sevem pairs of autosomes and one or two X chromosomes. Thus, males carry a total of 15 group-C chromosomes, and females carry 16. Centromeres are located either in the middle or sub-terminal regions. The X chromosome is one of the large chromosomes in this group.

large genes are characterized by many and large exons.

false Large genes: less exons, but lots of very large introns

nondisjunction usually happens in the cell division of the father's germ cells

false Meiotic Nondisjunction •Usually maternal (maternal age effect!) •Usually during MI (meiosis I) •Most aneuploidies in human lead to such dramatic effects, the fetus is spontaneously abortes early in development

both the arms of the submetacentacentric chromosomes have the same length

false Submetacentric:-one arm is longer than the another

the aim of the human genome project was to reveal the SNP profile of people with different nationality, and store the data in the databses

false What is a SNP ? SNP = single nucleotide polymorphism SNP is defined as a single base change in a DNA sequence that occurs in a significant proportion (more than 1 percent) of a large population. SNPs may alter recognition site of the restriction enzymes. → RFLP method to detect SNPs 90% of the polymorphisms are SNPs -May be transitions (A>G; T>C) (more frequent), transversions (A>C; T>G) -SNPs are found everywhere in the human genom -Occur in very high frequency about 1 in 1000 bases to 1 in 100-300 bases -humans have ~2 million SNPs, most of these are in noncoding regions synonymous polymorphisms: do not result in AA change non-synonymous polymorphisms: cause AA change may alter the protein structure SNP maps Sequence genomes of a large number of people Compare the base sequences to discover SNPs. Generate a single map of the human genome containing all possible SNPs → SNP maps SNP Profiles •Genome of each individual contains distinct SNP pattern. •People can be grouped based on the SNP profile. •SNPs Profiles important for identifying response to Drug Therapy. •Correlations might emerge between certain SNP profiles and specific responses to treatment.

making a complete genetics map is a routine examination

false Without the correct examination it is impossible to choose from the huge arsenal of the molecular biology methods; the "whole genetic mapping" is still far from routine examination.

Barr body can be detected in metaphase

false inactivated X chromosomes seen in female somatic cells are called Barr-bodies which are present adjacent to the nuclear membrane. Condensed state of densely stained chromatin signifies that in such cases DNA replication occurred at the later stage of S phase (synthesis) of cell cycle

drug during discovery mass spectrometry is capable of contamination analysis

false pathological metabolite detection: blood, plasma, urine, liquor (chemical assays, immunochemistry, isotopes, mass spectrometry) Mass spectrometry is an instrumental analytical technique, which is based on the ionization of the molecules (atoms) followed the separation of the previously formed ions according to their relative mass (m/z) Mass spectrometry in the medical laboratories Screening and diagnostics of inborn errors of metabolic diseases Diagnostics of endocrinological disorders Toxicology - Therapeutic Drug Monitoring Pharmacology Newborn Screening with mass spectrometry Sampling: dried blood spot (Guthrie card)- easy sampling and delivery Date of sampling: 48th -72nd hour of life Analysis: one sample - determination of several metabolite s, at least 30 different metabolic diseases can be diagnosed Early diagnosis forego the appearance of symptoms, therapy started in time reduces or prevents the development of late complications Amino acid disorders Mitochondrial fatty acid oxidation disorders Organic acidemias/acidurias method applied: tandem mass spectrometry

the centromere is in the middle of the acrocentric chromosomes

false •Primary constriction=centromer: repetitive DNA segments •A kinetochore is a disc-shaped protein structure, found at the centromere of a chromatid, to which microtubules attach during cell division. •The centromere divides the chromosome in to 2 arms •Based on the location of the centromere the chromosomes can be grouped into 4 types: Types of the choromosomes based on the location of the centromere: • Metacentric:-centromer in the middle • Submetacentric:-one arm is longer than the another • Acrocentric: -one arm is very small • Telocentric: chr. with one arm, the centromer is on the end of the chr.

the primary goal of the human genome project was the comparative genetics

false (to identify the approximate 100,000 genes in the human DNA. - determine the sequences of the 3 billion bases that make up human DNA.)

one of the goal of the human genome project was the recognition of all inherited diseases based on the abnormalities of the genome

false -Aims of the project: - to identify the approximate 100,000 genes in the human DNA. - determine the sequences of the 3 billion bases that make up human DNA. - store this information in databases. - develop tools for data analysis. - address the ethical, legal, and social issues that arise from genome research.

tandem repeats may cause diseases like fragile X syndrome or Downs syndrome

false Tandem repeats can cause several disorders: Fragile X syndrome -"CGG" is repeated hundreds or even thousands of times creating a "fragile" site on the X chromosome. -It leads to mental retardation Huntington's Disease -"CAG" repeat causes a protein to have long stretches of the glutamine amino acid. -Leads to a neurological disorder that results in death Mechanism of formation: -homolog recombination (unequal crossover) -replication slippage

Group of chromosomes A. A,B,C,D B. A,B,C,D,E,F,G,H, C. ?

svaret er GROUP A, B, C, D, E, F, G

the HGP(human genome project) completed successfully the finished version of the human genetic sequence in 2003

true

the subtelomeric regions of mitochondrial DNA contains more genes than the rest of the chromosome

true Gene-rich subtelomeric regions

XY females can have a deletion or a point mutation in the SRY GENES

true Sex-determining region Y -85% of XX-males have Y-derived sequences -Single gene, SRY, with conserved DNA-binding domain -Sry confers male development in transgenic mice -20% of XY-females have deletions or point mutations in SRY (HMG domain) -SRY NECESSARY BUT NOT SUFFICIENT FOR SEX DETERMINATION

sickle cell anemia is an autosomal recessive disorder, which is caused by a messenger mutation

true Sickle cell anaemia - missense mutation (In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid.) Autosomal recessive Mutation on the chromosome 11. Hemoglobin molecule will be damaged Heart attack, stroke

the ELSI research program, as an integral part of HGP, aimed to recognize genetic and genomic research on ethical, legal and research basis

true The Ethical, Legal, and Social Implications (ELSI) program was founded in 1990 as an integral part of the Human Genome Project. The mission of the ELSI program was to identify and address issues raised by genomic research that would affect individuals, families, and society

there is available pharmacological therapy in 3% of rare diseases

true The Challenge of Rare Diseases More than 6,000 rare diseases affect humankind Less than 200 have any pharmacotherapy available

missense mutation is more likely to be pathogenic , if it affects a functionally important part of the protein

true A missense mutation is more likely to be pathogenic if it affects a part of the protein known to be functionally important.

patau syndrome is considered as lethal disorder caused by trisomy 13

true Trisomy 13 Patau syndrome •Clinical features: microphthalmia; cleft lip and/or cleft palate; polydactyly; systemic anomalies (chest and abdominal cavity) •Inheritance: isolated cases Patau syndrome is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. ... Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis (the mosaic form is caused by nondisjunction during mitosis). lthough trisomy 13 is considered a lethal disorder that is not compatible with life, modern medicine has increased the lifespan and quality of life of some children with Patau syndrome. Depending on the severity of other symptoms, surgery may help fix heart or GI defects or repair a cleft.

the biggest problem of the direct-to-consumer genetic tests is the missing interpretation

true ( patient are no longer subordinate, passive recipients of physicians-initiated genetics testing; rather, patients can instigate their own testing and often know more than their doctors about particular genetics topics. indeed, health care providers are increasingly bypassed altogether, as patients embrace direct-to-consumer (DTC) genetic test and turn to social networks for help in interpreting their results. in the future a primary role of health care professionals may be to interpret patients DTC genetics test results and advise them about appropriate follow-up. )