8q21.2区域新的细胞遗传学可见拷贝数变异。
New cytogenetically visible copy number variant in region 8q21.2.
作者信息
Manvelyan Marina, Cremer Friedrich W, Lancé Jeannette, Kläs Rüdiger, Kelbova Christina, Ramel Christian, Reichenbach Herbert, Schmidt Catharina, Ewers Elisabeth, Kreskowski Katharina, Ziegler Monika, Kosyakova Nadezda, Liehr Thomas
机构信息
Jena University Hospital, Institute of Human Genetics, Kollegiengasse 10, D-07743 Jena, Germany.
出版信息
Mol Cytogenet. 2011 Jan 5;4(1):1. doi: 10.1186/1755-8166-4-1.
BACKGROUND
Cytogenetically visible unbalanced chromosomal abnormalities (UBCA), reported for >50 euchromatic regions of almost all human autosomes, are comprised of a few megabases of DNA, and carriers are in many cases clinically healthy. It may be speculated, that some of the UBCA may be similar or identical to copy number variants (CNV) of the human genome.
RESULTS
Here we report on a yet unreported cytogenetically visible copy number variant (CNV) in the long arm of chromosome 8, region 8q21.2, detected in three unrelated clinically healthy carriers.
CONCLUSION
The first description of a cytogenetically visible CNV/UBCA in 8q21.2 shows that banding cytogenetics is far from being outdated. It is a cost efficient, up-to-date method for a single cell specific overview on the whole genome, still prepared to deliver unexpected findings.
背景
细胞遗传学上可见的染色体不平衡异常（UBCA），几乎在人类所有常染色体的50多个常染色质区域都有报道，由几百万碱基对的DNA组成，并且在许多情况下携带者临床上是健康的。可以推测，一些UBCA可能与人类基因组的拷贝数变异（CNV）相似或相同。
结果
我们在此报告在三名无亲缘关系的临床健康携带者中检测到的8号染色体长臂8q21.2区域一个尚未报道的细胞遗传学可见拷贝数变异（CNV）。
结论
8q21.2区域细胞遗传学可见CNV/UBCA的首次描述表明，显带细胞遗传学远未过时。它是一种成本效益高、最新的方法，可对整个基因组进行单细胞特异性概述，仍有可能带来意外发现。
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