May 28, 2022

Health Hyme

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List of Important Questions Related to Medical Genetics and Genomics

11 min read
medical genetics and genomics questions healthhyme

The laws of inheritance are investigated by genetics. The different nucleic acids (DNA and RNA) in the living organism play a central role in the inheritance of the different features. The information in the DNA molecule is inherited from one generation to the next generation through reproduction.

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It means that the hereditary material is the DNA (in some viruses the RNA), more exactly the genes which are the functional units which determine the nature of the features.

Below is the list of some useful questions found in “Medical genetics and genomics 2016”  publication:

  1. When the terms mutation and polymorphism may be used?
  2. What kind of mutations do you know according to their origin?
  3. Give examples of some physical and chemical mutagens!
  4. Why could a double-stranded DNA break lead to structural chromosomal abnormality?
  5. What is the difference between the causes leading to polyalanine and polyglutamine diseases?
  6. What is the explanation for the existence of mutational hot spots?
  7. What is the connection between the anticipation and nucleotide repeat mutations?
  8. Why is SOS repair not found in multicellular organisms?
  9. When does mutation repair take place?
  10. Give examples of some mutagenicity tests!
  11.  What could be the consequence of splicing mutations?
  12. What are the causes of aneuploidy and polyploidy?
  13. What are the main regions of chromosomes?
  14. Explain the low incidence of monosomies!
  15. What is microchimerism, and what is its biological significance?
  16. In what diseases has UPD an etiologic role?
  17. What are the different positions of chromosomal breakpoints?
  18. What techniques are used for the detection of chromosomal aberrations?
  19. What are chimerism and mosaicism?
  20. What are the possible consequences of centric fusions?
  21.  What is the explanation of the higher frequency of first meiotic non- disjunctions ?
  22. What is the purpose of dosage compensation?
  23. What could be an evolutionary explanation for imprinting?
  24. What is a differentially methylated cluster?
  25. What molecular alterations are in the background of epigenetic changes?
  26. Why CpG dinucleotides can be mutation hot spots?
  27. What is the role of non-coding RNAs in X inactivation?
  28. What mechanisms can cause Angelman syndrome?
  29. What is the histone code?
  30. What are the CpG islands and what is their epigenetic significance?
  31.  What is chromatin remodeling?
  32. Describe Mendel’s principles!
  33. Define the following terms! — gene, allele, multiple allelism, complex or compound heterozygotes, locus heterogeneity, allele heterogeneity, dominance, recessivity, codominance.
  34. Which phenomena interfere with the classical application of Mendel’s principles in the case of monogenic diseases?
  35. Define the following terms! Give examples of the diseases for each term! —- pleiotropy, expressivity, penetrance, anticipation, phenocopy, complex or compound heterozygotes, heterogeneity, sublethal/lethal gene, new mutation, modifier gene.
  36. Describe the meaning and give examples: the age and the sex influence the manifestation of some diseases.
  37. Which are the classical monogenic inheritance patterns?
  38. How has the discovery of oligogenic inheritance pattern affected our view of the monogenic inheritance? Give examples!
  39. What types of genes are usually mutated in the case of AD and AR diseases? Give examples for each type!
  40. Does the environment influence the manifestation of diseases following monogenic inheritance patterns?
  41. Describe the inheritance and the manifestation of tumors and pharmacogenetic diseases with respect to the environmental effects!
  42. What is the role of RNAs in cytoplasmic inheritance?
  43. What kinds of dose compensation mechanisms are known?
  44. What is the supposed role of skewed X inactivation in the development of autoimmune diseases?
  45. Based on pedigree analysis how can we distinguish the X linked dominant inheritance from the autosomal dominant one?
  46. What are homo- and heteroplasmy?
  47. What can be the consequences of maternal heteroplasmy?
  48. What do you know about the genetics of pre – eclampsia?
  49. What are the characteristics of the inheritance of precocious puberty?
  50. Which genes can escape the X inactivation?
  51. What are the differences amongst the symptoms of a carrier woman, if the X. – linked gene encodes a soluble or a cell bound product?
  52. What kind of oncogene activation mechanisms do you know?
  53. What is LOI?
  54. What is the function of care taker and gatekeeper genes?
  55. What do you know about the iPS cells?
  56. What is sonic hedgehog and what is its effect based on?
  57. What is the role of HOX genes?
  58. What is the role of SRY and RSPO1?
  59. Give an example of epigenetic changes related to carcinogenesis!
  60. Explain the Knudson ‘s hypothesis!
  61. Why is somatic recombination not regarded as an epigenetic mechanism?
  62. What is genome?
  63. What is genomics?
  64. What is the difference between genetics and genomics?
  65. When did the Human Genome Project start?
  66. Which organizations were involved in the initialization of the HGP?
  67. Give some examples about the main aims of the HGP!
  68. What was the name of the sequencing method which was proposed by Craig Venter, and what was the name of the company funded by him?
  69. What is the Archon Genomics X PRIZE?
  70. Give some examples for larger genome projects!
  71. What is the size of the human genome?
  72. Approximately, how many protein coding genes are in the human genome?
  73. How many percent is the protein coding part of the human genome?
  74. Which one is the largest human gene?
  75. Which gene has the longest coding sequence?
  76. Which chromosome is the gene richest?
  77. Which is the gene poorest chromosome?
  78. When are the most inherited mutations produced?
  79. What are the CpG islands?
  80. What is the genetic imprinting?
  81. What is the name for the most frequent repeats?
  82. How many percent is the repeat part of the human genome?
  83. On average, how many genes with loss. – of-function mutations does an individual carry?
  84. What is the SNP?
  85. What is the MAF?
  86. What do Copy Number Variations mean?
  87. What is the CNP?
  88. On average, what is the difference on genomic level between two individuals?
  89. Did the homo sapiens interbred with other species or subspecies?
  90. Which is the most variable part of the human genome?
  91. What are the pseudogenes and what can be the role of them?
  92. What are the paralogs?
  93. Relatively, where are the SNPs the most frequent?
  94. What is the junk DNA, and what is the importance of it?
  95. What is the aim of the ENCODE project?
  96. Give some examples for the results of the ENCODE projects!
  97. What results did the DNase I hypersensitivity (DHS) assays in the ENCODE project give?
  98. What is the connection between the transcription factors and the DNA methylation?
  99. What is the gene kissing?
  100. What can be the roles for the RNA in the genome?
  101. What is the comparative genomics?
  102. How many percent of the human genome is conserved?
  103. What does the comparison of the human genome with the Neanderthal and chimpanzee genome show?
  104. What are the complex diseases?
  105. What features have the complex diseases?
  106. Why is it important to study the genomic background of complex diseases?
  107. What are the difficulties which cause that genomic results infiltrate only slowly to the practice?
  108. How can we prove that a disease has a heritable fraction?
  109. What are the problems with the  values?
  110. How can the bias because of the environmental factors be mitigated?
  111. What is the heritability of a trait?
  112. What is the QT?
  113. What are the discontinuous traits?
  114. What is the QTL?
  115. What are the factors, which make the determination of the genetic backgrounds of the complex diseases difficult?
  116. What is genetic heterogeneity?
  117. What is phenocopy?
  118. What is genetic pleiotropy?
  119. Give some examples why it is difficult to determine the phenotype of a complex disease!
  120. What does it mean: missing heritability in genomics?
  121. What are the CD/CV and CD/RV hypothesis?
  122. What is synthetic association?
  123. What is the consequence of the random behavior of the genome?
  124. Why has it been unsuccessful so far to determine the genetic background of complex diseases?
  125. What is the Bonferroni correction?
  126. What results were provided by the ENCODE projects regarding the GWAS results?
  127. What is the thrifty gene hypothesis?
  128. What is the hygiene hypothesis?
  129. What is the Old Friends hypothesis?
  130. What is metagenomics?
  131. What is the antagonistic pleiotropy?
  132. What can be the consequence of the migration?
  133. What are the genetic markers? Give examples!
  134. What are the advantages and disadvantages of the STRs relative to the SNPs?
  135. What basic methods are known for the study of the genomic background of the complex diseases?
  136. What are in genomics the in silico vs. wet laboratory methods?
  137. Give examples for the hypothesis-driven and hypothesis-free genetic/genomic methods!
  138. What is the candidate gene association study?
  139. In what genomic studies are the microsatellites used?
  140. What is the disadvantage of the linkage studies?
  141. What is the LOD score?
  142. What is the GWAS?
  143. What are the main difficulties of GWAS?
  144. What does genome wide significance mean?
  145. What is the pathway analysis?
  146. What is the gene set enrichment analysis?
  147. What is the PGAS?
  148. What is the positional cloning?
  149. What does personal genomics mean?
  150. What can be the problems with the DTC genomics companies?
  151. What does exome sequencing mean?
  152. What does DN-ase – seq mean?
  153. What is the ChIP – seq?
  154. What are the advantages of the microarray gene expression measurements?
  155. What is the RNA. – seq method?
  156. What is the CGH?
  157. How is it possible to determine the methylation pattern?
  158. What is the advantage of using animal models for studying human diseases?
  159. What genomic modified animal models do you know and what are they good for?
  160. What are conditional transgenic animals?
  161. What are the shortcomings of the animal models?
  162. Give examples for the experimental disease models!
  163. What is population genetics?
  164. What types of sample collection methods do you know? Give some examples!
  165. What strategies do you know for the selection of patients in retrospective studies? What are the advantages and disadvantages?
  166. What does endophenotypes mean?
  167. What is HWE?
  168. What can be the causes for the deviation from the HWE?
  169. What does linkage disequilibrium mean?
  170. What measures for LD do you know?
  171. What does haplotype mean?
  172. What is cM?
  173. What can be the causes for genetic linkage?
  174. What are the founder populations and how can they be used in genetic studies?
  175. In population genetic studies what can be the cause of an association?
  176. What does population stratification mean?
  177. What methods do you know for the control of the problem of population stratification?
  178. What does the population admixture mean in population genetics?
  179. What values can be used for the estimation of risk in association studies?
  180. What is the evolutionary genetics?
  181. What selection processes contributed to the development of the human genome?
  182. Give examples for the microorganism – human genome interactions!
  183. What is the genetic drift?
  184. What is the bottleneck effect?
  185. Why are some lethal mutations frequent?
  186. Why is F508 mutation frequent?
  187. Why is the sickle cell anemia frequent in certain populations?
  188. What mutation is protective against AIDS?
  189. Give examples for effects forming the genome!
  190. Give examples for the selection pressure of the sunlight today!
  191. Give an example for the selection pressure of the available food!
  192. Give an example for the selection pressure of the life in high altitude!
  193. What do you know about the genetic background of lactose intolerance?
  194. What does convergent evolution mean?
  195. What can be the reason that sometimes traits may appear which have nothing to do with the selection pressure?
  196. What role did horizontal gene transfer play in the development of the human genome?
  197. From a gene environmental point of view what does it mean that a genetic variant has high or low penetrance?
  198. What is the distribution of the population regarding responses to environmental stimuli?
  199. Give examples for the interactions between highly penetrant genetic variants and the environment!
  200. Give examples for the interactions between low penetrant genetic variants and the environment!
  201. What aspects can be investigated studying the smoking-genome interactions?
  202. Give examples for genes playing roles in the addiction to smoking!
  203. With which disease did genetic variants in the nicotinic receptors associate in different GWAS?
  204. What roles do the variants of the CYP2A6 genes play in smoking?
  205. What does the association between the 8.1 ancestral haplotype of the MHC region and smoking initiation implicate?
  206. Give examples for genes in which variations can influence the health of the smokers!
  207. What kind of environmental factor interacts with HLA-DRB1 SE, and what can be the consequences?
  208. What consequences have been found for carriers of the C4B* Q0 variants?
  209. What gene has an important role in the degradation of the toxins in the smoke? What can be the consequences of the variations in this gene?
  210. What gene has variations which influenced the risk to asthma in smokers?
  211. Give some examples for the gene environmental interactions regarding the APOE gene!
  212. Which gene variations can influence the effect of consuming food rich in arachidonic acid on intima-media thickness?
  213. What food supplements would you recommend for men carrying promoter polymorphisms in the ALOX5 gene?
  214. What food supplements would you recommend for individuals carrying the thermolabile variant of the MTHFR gene?
  215. What environmental factors and how can influence the effect of variations in the CD14 gene?
  216. Is it possible that a genetic variation can have opposite effects in different populations? Explain it!
  217. What environmental factor can interact with the variations in the ADH3 gene, and how?
  218. With what diseases did the 9p21 chromosome region associate, and what and how influenced this association?
  219. What non-genetic factor influenced the effect of polymorphism associated with risk to obesity?
  220. What is GWAIS and what did it find in Parkinson disease?
  221. What is nutrigenomics or nutrigenetics and what is its significance?
  222. How was it proved that virgin olive oil had anti-inflammatory effect?
  223. What is favism and what are its consequences?
  224. What are the difficulties in the gene environmental interaction studies and what is its significance?
  225. What main goals has pharmacogenomics?
  226. What is the significance of pharmacogenomics?
  227. How can genetic variations be used in clinical trials?
  228. With what mechanisms can genetic variations influence the drug-response?
  229. What are the difficulties of pharmacogenomic researches?
  230. What diseases and what gene family are overrepresented in the FDA table with approved pharmacogenomic biomarkers in drug labels?
  231. Give examples for genes influencing pharmacokinetics!
  232. What and how can genetic variations of CYP2C9 and VKORC1 influence?
  233. How can CYP chips be used?
  234. What can genetic variations in butyrylcholinesterase influence?
  235. What gene can influence the adverse effect of mercaptopurine?
  236. What roles can ABC transporters have in pharmacology?
  237. To what gene family does the gene whose genetic variations can influence the cardiac side effects of the anthracyclines belong?
  238. Give examples of a gene influencing the pharmacodynamics of warfarin!
  239. What is the main effect of the statins?
  240. What gene family plays an important role in the metabolism of statins?
  241. What gene family plays a role in the transport of statins?
  242. What is the main effect of clopidogrel and what gene family is responsible for the activation of the pro – drug?
  243. What kind of study has been carried out for the investigation of the pharmacogenomics of clopidrogel in an Amish population? What has it found?
  244. What gene variation influences the effect of B2 . – agonists?
  245. Give an example for gene influencing the effect of anti leukotrienes!
  246. What can be the possible future of the pharmacogenomics?
  247. What is systems biology?
  248. How are the interactions displayed in systems biology?
  249. What properties have the interaction networks in different organism?
  250. Give examples for the interaction networks in biologic systems!
  251. Who described first the properties of the modern biologic network?
  252. What are the hubs in the networks?
  253. What is the link between essential genes, disease genes and hubs?
  254. What is a disease module in biologic network?
  255. How can diseases be explained from systems biological point of view?
  256. What is the concept of diseasome and how can it be used?
  257. What does the shared gene hypothesis say and what are its consequences?
  258. What are the shared metabolic pathway and microRNA hypotheses?
  259. What are the phenotypic disease networks and what can be their significance?
  260. With systems biological methods how have new TIDM genes been detected?
  261. How was it investigated whether the detected new TIDM genes corresponded to the characteristics of the disease genes?
  262. What can be deduced from the interaction network of the GWAS results of 5 diseases regarding Alzheimer disease?
  263. What is the significance of the network pharmacology?
  264. What are palliative drugs?
  265. What can be the first step of the rational drug design?

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