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LBA技术在染色体变异检测中的应用。I. 具有已知Q变异位点的染色体

LBA technique in the detection of chromosome variants. I. Chromosomes with known sites of Q variants.

作者信息

Oka S, Nakagome Y, Matsunaga E, Arima M

出版信息

Hum Genet. 1977 Nov 2;39(1):31-7. doi: 10.1007/BF00273151.

Abstract

A method is described (LBA method) which used DNA replication pattern in the detection of chromosome variants in man. In Part I, results on chromosomes with known sites of Q-variants, i.e., 5 pairs of acrocentrics, as well as 3 and 4, were presented. Fourty-one variants were detected in a total of 40 acrocentrics. Twenty-eight of them were detected only by the LBA technique; 11 of them being in short arms and 17 of them in centromeres. Seven variants, including 4 of those in satellites, were detected only in QFQ-stained metaphases. Six short-arm variants were observed by both methods. It appears that a sequential QFQ-LBA technique is very useful in the detection of variants in D- or G-group chromosomes.

摘要

本文描述了一种利用DNA复制模式检测人类染色体变异的方法(LBA法)。在第一部分,展示了对具有已知Q变异位点的染色体的检测结果,即5对近端着丝粒染色体,以及3号和4号染色体。在总共40条近端着丝粒染色体中检测到41个变异。其中28个仅通过LBA技术检测到;11个位于短臂,17个位于着丝粒。7个变异,包括4个卫星区域的变异,仅在QFQ染色的中期检测到。两种方法均观察到6个短臂变异。看来,顺序QFQ-LBA技术在检测D组或G组染色体变异方面非常有用。

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