Clinical Genetic Test

138. The finale product of gene expression is:

139. Choose an alternative method for diagnosing achondroplasia:

140. What are CpG island?

141. Genes with only one transcriptionally active copy (maternal or paternal) are called:

142. Genes which mutation may cause accumulation of mutations in other genes are called?

143. Microdeletion syndrome may be confirmed using a following:

144. CBG staining means:

145. Short arm an long arm of a chromosome are labeled as:

146. Find an unbalanced aberration:

147. Find the correct description of a translocation according to ISCN rules:

148. Which statement about CAIS are FALSE:

• 1. gonads are testes and are located in scrotum 
• 2. gonads are testes and are abnormally located 
• 3. the mullerian system typically regresses
• 4. anti mullerian hormone is not produced 
• 5. patients have female appearance because testosterone cannot act properly and is aromatized to estrogen
• 6. patients have female apperance because dihydrotestrosterone is not produced

149. Which statement about CAIS are CORRECT: 

• 1. the mullerian system typically regresses
• 2. anti mullerian hormone is not produced
• 3. gonads are testes and are located in scrotum
• 4. gonads are testes and are abnormally located
• 5. patients have female appearance because testosterone cannot act properly and is aromatized to estrogen
• 6. patients have female appearance because dihydrotestosterone is not produced 

150. Microdeletion syndrome is may be confirmed using a following FISH probe:

151. Find balanced aberration:

152. What is used for MLPA analysis:

The pedigree chart below represents: 

154. Theoretically the chances for healthy offspring for an individual with the following karyotype 45,XX,DEL(21,21)(Q10.Q10) & 46,XYR

155. DNA methylation that is involved in gene expression regulation refers to methylation of:

156.  Human DNA is condensed to chromation:

157. After receiving cytogenetic result that says there are 46 chromosomes with unbalanced Robertsonian translocation between chromosome 14 and 21, you:

158. The time needed for culturing aminocytes is:

159. Protein coding gene sequence is composed of:

160. The structure that allows each duplicated eukaryotic chromosome to be pulled into a daughter cells is called a:

161. A standard pedigree:

162. Indicate an optimal method to detect a dynamic mutation in patient:

163. A whole arm reciprocal balanced translocation was found in classical cytogene.... Chose an appropriate FISH probe for the confirmation of the above:

164. The cytogenetic analysis may be performed in the following tissues:

165. Colcemid is used in cytogenetic procedure for:

166. Human genome includes about:

167. In Europe the term rare disease means that its prevalence is not higher than

168. Choose an unbalanced aberration:

169. CBG technique is used for the analysis of:

170. Find possible cytogenetic result for a patient with Patau syndrome:

171. What is the major function of proto-oncogenes?

172. What is the function of DNA repair systems?

173. Clinically and therapeutically important genes, which are tested in lung and colon cancers for point mutaitons are:

174. An example of DNA mutation is:

175. Epigenetic instability in cancer refers to:

176. What is the target for histone-modifying enzymes?

177. Which answer presents ALL INCORRECT statements abount Huntington disease (HD): 

1. Decreased bicaudate distance is a typical neuroimaging finding in HD
2. Westpahl variant is a juvenile form of HD characterised by the onset that is predominated by parkinsonsian syndrome
3. HD originates from dynamic mutation in the HTT gene that rely on expansion of CAG trinucleotide 
4. Certain basal ganglia regions and dopaminergic transmission are primarily affected in HD
5. The onset of HD predominated by unspecific psychiatric symptoms might occur in HD patients