[用人端粒带涂染探针检测微小染色体重排]

[Minute chromosome rearrangement detected by human telomeric band painting probes].

作者信息

Qian Wei-Ping, Tan Yu-Mei, Tan Yue-Qiu, Song Dan, Xu Xiao-Qing, Li Lu-Yun, Lu Guang-Xiu

机构信息

Institute of Reproduction and Stem Cell Engineering, Xiang-Ya School of Medicine, Central South University, Changsha 410078, China.

出版信息

Yi Chuan. 2006 May;28(5):518-20.

PMID:16735227

Abstract

In order to assess the value of applying human chromosomal telomeric band painting probes (TBPs) in genetic diagnosis, we used three human telomeric band painting probes in fluorescence in situ hybridization (FISH) to analyze two cases who had a history of habitual abortion and were suspected to carrying a minute translocation. The probes were prepared by microdissection, and the covered regions were 11q23.3-->qter12q24.1-->qter and 22q13.1-->qter, respectively. According to the FISH results, both the cases were cryptic minute translocation carriers. The involved chromosomes were chromosome 11 and 12 in case 1, and chromosome 11 and 22 in case 2. Combined with chromosome G banding, their breakpoints were 11q23.3, 12q24.1, and 22q13.1, respectively. The results showed that the telomeric band painting probes can be used as a tool to determine minute chromosomal abnormality and the precise breakpoints.

摘要

为了评估应用人类染色体端粒带描绘探针（TBPs）在基因诊断中的价值，我们使用三种人类端粒带描绘探针进行荧光原位杂交（FISH），以分析两例有习惯性流产史且疑似携带微小易位的病例。探针通过显微切割制备，覆盖区域分别为11q23.3→qter、12q24.1→qter和22q13.1→qter。根据FISH结果，两例均为隐匿性微小易位携带者。病例1涉及的染色体为11号和12号染色体，病例2涉及的染色体为11号和22号染色体。结合染色体G显带，其断点分别为11q23.3、12q24.1和22q13.1。结果表明，端粒带描绘探针可作为确定微小染色体异常及精确断点的工具。