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Jureeporn Kampan
Raksawan Deenonpoe


Fluorescent in situ hybridization technique (FISH) is developed to detect chromosomal abnormalities that are not observed by chromosome banding techniques such as microdeletion, microduplication, chromosome aneuploidy and also used to detect the fusion gene in leukemia. either in metaphase or interphase cells. The objective of this study is to apply FISH technique to detect chromosome aberrations in patients with genetic disease using both interphase and metaphases phases. DiGeorge syndrome (22q11 microdeletion), chronic leukemia (t(9; 22) (q34;q11.2)) and Patau's syndrome (trisomy 13) were used as case study to perform. Patient bone marrow or blood specimens were collected from Srinagarind Hospital, Faculty of Medicine, Khon Kaen University. The interphase and metaphase cells were prepared from bone marrow or blood by with and without cell culture at 37 °C for 72 hours, respectively. The interphase cells were used to detect BCR / ABL fusion gene due to t(9; 22) (q34;q11.2) using dual color dual fusion translocation probe and Patau's syndrome with trisomy 13 in using Vysis LSI 13 RB1 (13q14) probe respectively. The metaphase cells were used to detect microdeletion at 22q11 using amplification-deletion probe in DiGeorge syndrome patient. The achieve results were shown in this study. This demonstrated that the interphase cells without cell culture can be used to perform genetic testing. Especially, it is suitable for urgent diagnosis and monitor percentage of fusion gene in chronic leukemia patients. Whereas, the architecture of all chromosomes was demonstrated in the metaphase. In conclusion, FISH technique using interphase or metaphase cells as specimens can be used in a routine genetic testing of chromosomal abnormalities.


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