使用多色荧光原位杂交技术检测血液系统疾病复杂核型中具有诊断关键意义且常隐匿的异常情况。

Detection of diagnostically critical, often hidden, anomalies in complex karyotypes of haematological disorders using multicolour fluorescence in situ hybridization.

作者信息

Jalal S M, Law M E, Stamberg J, Fonseca R, Seely J R, Myers W H, Hanson C A

机构信息

Cytogenetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic and Mayo Foundation, 200 First Street SW, Rochester, MN 55905, USA.

出版信息

Br J Haematol. 2001 Mar;112(4):975-80. doi: 10.1046/j.1365-2141.2001.02630.x.

DOI:10.1046/j.1365-2141.2001.02630.x

PMID:11298595

Abstract

Multicolour fluorescence in situ hybridization (M-FISH) simultaneously detects all 24 human chromosomes in unique fluorescent colours. The identification of diagnostically critical gene rearrangement(s) in complex karyotypes of haematological disorders continues to be a challenge. We present five cases in which t(9;11), complex t(8;22), t(12;21) and t(11;14) were detected primarily using M-FISH and were confirmed using locus-specific probes. We conclude that M-FISH can be effective in complete characterization of critical gene rearrangements in haematological disorders.

摘要

多色荧光原位杂交（M-FISH）以独特的荧光颜色同时检测人类所有24条染色体。在血液系统疾病复杂核型中鉴定具有诊断关键意义的基因重排仍然是一项挑战。我们展示了5例病例，其中主要通过M-FISH检测到t(9;11)、复杂的t(8;22)、t(12;21)和t(11;14)，并使用位点特异性探针进行了确认。我们得出结论，M-FISH可有效地全面表征血液系统疾病中的关键基因重排。