Download Questions 2011-engl

‘Klausur’ Mol Med SS 2011 – lecture Human Genetics (Liehr, Baniahmad)
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- Each question has one correct answer mark only one letter for each question. Do not write
the letter for the answers on the papers!
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Name: __________________
Mat-Nr.: ________________
1. Which of the following diseases do follow a Mendelian inheritance?
(1)
(2)
(3)
(4)
(5)
cystic fibrosis
diabetes mellitus type II
Prader-Willi-syndrome
optic atrophy type Leber
Neurofibromatosis type 1/ Morbus Recklinghausen
(A) 1 and 3
(B) 1 and 5
(C) 2, 3 and 4
(D) 1, 4 and 5
(E) 1-5 = all
2. Banding cytogenetics used to detect:
(1) microdeletion syndromes.
(2) major structural rearrangements.
(3) aneuploidies.
(4) imprinting disorders.
(5) mitochondrial disorders.
(A) 2 and 3
(B) 1 and 2
(C) 3 and 4
(D) 2, 3 and 4
(E) 3, 4 und 5
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3. Which of the following chromosomal aneuploidies of human are compatible with life (no mosaic
karyotypes)?
(1) 47,XX,+8
(2) 45,X
(3) 45,Y
(4) 47,XY,+13
(5) 49,XXXXX
(A) 1 and 2
(B) 2 and 4
(C) 2, 3 and 4
(D) 2, 4 and 5
(E) 1, 3, 4 and 5
4. A pregnant woman of advanced maternal age was counselled in by an MD being specialist in
human genetics. Which of the following statements is (are) true?
(1) Clear instructions are given to be the female about the prenatal diagnostic procedures to be
performed.
(2) The genetic counseling is an open consultation. It has the goal to make the pregnant
woman to specialist of her present situation. The latter enables her to decide about further
actions.
(3) The pregnant woman can expect to obtain 100% security about the future development of
her developing child.
(4) If the karyotype is normal a genetically healthy child will be delivered.
(5) A genetic counseling lasts in maximum 20 min.
(A) 1
(B) 2
(C) 3 and 5
(D) 1, 2, and 4
(E) 2, 3 and 5
5. In which of the following situations, genetic counseling can be indicated:
(1) family planning / infertility/ in vitro fertilization
(2) special findings during pregnancy / abortion/ stillbirth
(3) birth of a diseased child
(4) predictive diagnostics
(5) familial tumors
(A) 1, 3, 4
(B) 2, 3, 4, 5
(C) 1, 3, 4, 5
(D) 3, 5
(E) 1-5 = all
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6. Which of the following syndromes caused by chromosomal imbalances is the less likely to be
associated with a mental impairment / mental retardation?
(A) Down-syndrome
(B) Cri-du-chat-syndrome
(C) Fragile-X-syndrome
(D) Turner-syndrome
(E) Edwards-syndrome
7. Which of the following is true for genomic imprinting?
Imprinting is
(A) an unmodified transmission of genetic information from mother to child.
(B) a modification of gene-activity by intragenic repeat-expansion.
(C) an appearance of genetically caused signs in following generations not following the expected
mode of inheritance.
(D) a different gene-activity, according to the fact if a gene is transmitted via the father or the mother.
(E) the inheritance of X-chromosomal genes from father to daughter.
8. What of the following is not true concerning X-chromosome inactivation in female with normal
karyotype?
(A) At the beginning in a normal female embryo both X-chromosomes are active in all cells.
(B) In any given cell and their daughter cells of an adult female, always the identical X-chromosome
is inactivated.
(C) In interphase-nuclei of a female the inactive X-chromosome is stainable and visible as a tightly
packed body.
(D) The inactivation of one X-chromosome is happening in female germ cells.
(E) Active and inactive X-chromosomes show always significant and clinically relevant differences
in DNA-sequence.
9. What of the following is true?
Cells with the karyotype 47,XX,+3 are
(A) triploid
(B) aneuploid
(C) heteroploid
(D) polyploid
(E) superploid
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10. The rich person II:3 (arrow) wrote his last will and wanted to give all his property to the person
most closest related to him? Who is that?
(A) IV:1
(B) IV:2
(C) IV:3
(D) IV:4
(E) IV:5
11. Which of the following syndromes has always caused monogen?
(A) isolated cleft palate
(B) dysplasia of the hip
(C) inborn heart defect
(D) achondroplasia
(E) asthma bronchiale
12. A given autosomal-dominant inherited syndrome has a penetrance of 60%. What is the likelihood
that a child of a symptomatic person is hit of the same syndrome?
(A) 15%
(B) 30%
(C) 40%
(D) 50%
(E) 60%
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13. In patient III:3 an autosomal dominant syndrome is present. According to clinical signs no other
members of this pedigree are suffering from the same syndrome.
What is true?
(A) The risk for repetition for further children of II:3 and II:4 (parents of index patient) is most likely
50%.
(B) The risk for repetition for further children of II:3 and II:4 (parents of index patient) is most likely
25%.
(C) The risk for repetition for further children of II:3 and II:4 (parents of index patient) is very little,
as in III:3 there is most likely a dominant de novo mutation.
(D) The risk for repetition for further dominant de novo mutations in children of II:3 and II:4 (parents
of index patient) is 50%.
(E) The finding of an autosomal dominant syndrome in III:3 points towards a relationship of II:3 and
II:4.
14. What is not true for molecular cytogenetics (fluorescence in situ hybridization - FISH)?
(A) Centromeric probes have alpha-satellite-DNA and are suited for enumeration of chromosomes in
the interphase nucleus.
(B) Using chromosome paints translocations can be characterized.
(C) FISH-probes have to be denaturated prior to hybridization.
(D) There is one individual single-copy-FISH-probe by which all known microdeletion- and –
duplication-syndromes can be detected.
(E) A FISH-experiment is evaluated under the fluorescence-microscope.
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15. Which is true? A genetic polymorphism
(A) has maximum three different genotypes (alleles; e.g. ABO-system).
(B) shows normally a frequency of one rare allele of below 1%.
(C) is almost always based on the exchange of a base (single nucleotide polymorphism = SNP)
(D) shows differing population dependant differences of allele-frequencies
(E) alters often the protein-sequence
16. What has to be done with the peripheral blood probe of a cystic fibrosis patient before the ‘stripetest’?
(A) nothing – just apply native blood directly in the test
(B) extract DNA and do a multiplex PCR
(C) extract RNA and do a cDNA-synthesis
(D) extract protein and do a 2D-gelelectorphoreses
(E) extract interphase cells and do a FISH analysis
17. Which is true? A whole genomic array-CGH-analysis is
(1) less informative than a cytogenetic banding analysis alone.
(2) a high resolution method.
(3) sometimes hard to interpret due to copy number polymorphism of the human genome.
(4) to be done without computer based supporting software.
(5) a method, which only detected gain and loss of genetic material but no balanced translocations.
(A) 3
(B) 1
(C) 1 and 3
(D) 1, 3 and 4
(E) 2, 3 and 5
18. What is true in context with gene therapy?
(A) Gene therapy is used nowadays in many clinical fields as a routine approach.
(B) There are no severe ethical differences between somatic and germline gene therapy.
(C) The available vectors for gene therapy are not very efficient.
(D) Gene therapy shall be used in the sense of eugenic.
(E) More the half of >1000 world wide studies using gene therapy lead to relevant result for the daily
practice and led to phase IV studies.
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19. Which of the following is not a part of what is currently summarized under the term epigenetics:
(A) genetic information coded as base-sequence and transmitted via mitoses and meioses.
(B) interphase-nuclear architecture.
(C) imprinting.
(D) chromatin modifications.
(E) DNA-methylation.
20. Teratology is about
(1) tumorcytogenetics.
(2) minimizing risks by systematic study of (potentially) harmful substances.
(3) oncogenes, tumorsuppressorgenes and induced chromosome aberrations.
(4) the impact of medication and drugs on human health.
(5) effects of virus-infections and ionizing irradiation.
(A) 3
(B) 1
(C) 1 and 3
(D) 2, 4 and 5
(E) 2, 3 and 5
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