LESSON 1.4: CYTOGENETICS IMPORTANCE

Question 1

T OR F: ● Prenatal Diagnosis of the Common Aneuploidies
● Chromosomal Disorders Non-invasive Detection
Using Maternal Blood

Answer 1

TRUE

Question 2

T OR F: ● Studies of Mosaicism and Its Effect on Early Human Development
● Prenatal Diagnosis of the Common Aneuploidies
○ 98% of the chromosomal aberrations causing live-born birth defects are Aneuploidies including:

Answer 2

False: 95%

Question 3

Modern detection technique is through
____________________ with uncultured amniocytes. (Klinger et al, 1992,Ballif et al, 2000)

Answer 3

interphase FISH prenatal diagnosis

Question 4

Maternal Blood Cytogenetic analysis of fetal cells by FISH is a useful method for prenatal diagnosis of chromosomal disorders (fetal nucleated red blood cells which pass into the maternal circulation provide a cell source for noninvasive prenatal genetic diagnosis)

Answer 4

Chromosomal Disorders Non-invasive Detection

Question 5

Detection of Specific Translocations and Gene Rearrangements

Answer 5

Human cancer studies

Question 6

This can detect chromosomal translocations in hematologic neoplasms, malignant lymphomas, and solid tumors have been identified.

Answer 6

Molecular cytogenetics

Question 7

For patients with chronic myeloid leukemia, it has been shown that ___________ is highly sensitive in detecting the ___________ (Dewald et al, 1998).

Answer 7

interphase FISH; BCR/ABL fusion (Breakpoint Cluster Region/Abelson protein; gives off green color)

Question 8

Molecular Cytogenetics can detect specific genes in many cases of acute leukemia, for example, the involvement of the MLL gene in an _______________ (Fleischman et al.,1996) and the TEL/AML1 fusion in childhood acute lymphoblastic leukemia (Rafi et al, 2000).

Answer 8

11q23 rearrangement

Question 9

Through the Molecular Cytogenetics, interphase FISH approach,chromosomal aneuploidies can be detected without cell culturing in any given tissue or cell source, such as touch preparations, sections of frozen tumor,and paraffin-embedded tissue.

Answer 9

Analysis of Gains and Losses of Chromosomes or Chromosomal Regions in Tumors

Question 10

○ Deletion of tumor suppressor genes (e.g.p53 and RB-1) and
○ Amplification of oncogenes, (e.g.N-myc, C-myc, and HER-2/neu) can be detected by FISH or CGH studies of tumor tissues.

Answer 10

Testing Deletion of Tumor Suppressor Genes and Amplification of Oncogenes.

Question 11

This is basically the analysis of genomic alterations using mainly in situ hybridization based technology.

Answer 11

Molecular cytogenetics