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Development of automated karyotyping that allows for accurate identification of the origin of chromosome bands and subtelomeres.

开发自动核型分析技术，可以准确识别染色体带和亚端粒的起源。

基本信息

批准号：
12470519
负责人：
KAKAZU Naoki
金额：
$ 3.65万
依托单位：
Kyoto Prefectural University of Medicine
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (B)
财政年份：
2000
资助国家：
日本
起止时间：
2000 至 2001
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-12470519/
关键词：
cytogenetic analysis G-banding chromosomal abnormality SKY SCAN color banding カラー分染像

项目摘要

We have developed a novel spectral color banding (SCAN) technique based on spectral analysis of differentially labeled band-specific painting probes. In this study, we succeeded in displaying a multicolor-banding pattern for a specific chromosome, which was almost identical to the pattern obtained with the corresponding G-banding. SCAN analysis allowed for accurate identification of chromosome-band origin on the basis of the unique spectrum of each band.We then used SCAN for a complete analysis of chromosomal abnormalities, which could not be identified by G-banding or even by spectral karyotyping (SKY) and the following results were obtained.1. We applied this method to metaphase cells from different normal male donors having karyotypes with various levels of banding resolution ranging from 250 bands per haploid karyotype to 550 bands. The same multicolor-banding pattern was observed in all samples regardless of the length of the chromosomes or the quality of the G-banding pattern.2. SCAN was capable of accurately identifying chromosome-band origin of small chromosome segments.3. SCAN analysis was able to identify intrachromosomal changes not previously detected by G-banding or SKY.4. SCAN has made it possible to accurately identify the translocation breakpoints of complex rearrangements.This study demonstrates that SCAN is a useful tool for cytogenetic analysis and an important step on the road to fully automated karyotyping.

我们已经开发了一种新的光谱显色带（SCAN）技术的基础上，光谱分析的差异标记的带特异性涂料探针。在这项研究中，我们成功地显示了一个多色显带模式的特定染色体，这是几乎相同的模式与相应的G-显带。SCAN分析可以根据每条带的独特光谱准确地鉴定染色体带的来源，然后我们使用SCAN对G显带或光谱核型分析（SKY）无法鉴定的染色体异常进行了全面分析，并获得了以下结果.我们应用这种方法从不同的正常男性供体的中期细胞具有不同水平的带分辨率范围从250带每单倍体核型550带的核型。无论染色体长度或G-带型的质量如何，所有样本都观察到相同的多色带型. SCAN能够准确识别染色体小片段的染色体带起源. SCAN分析能够识别先前未通过G显带或SKY检测到的染色体内变化。本研究表明，SCAN是一种非常有用的细胞遗传学分析工具，是实现染色体核型分析全自动化的重要一步。