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首页> 外文期刊>Genomics >Frequent germline deletion polymorphism of chromosomal region 8p12-p21 identified as a recurrent homozygous deletion in human tumors.
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Frequent germline deletion polymorphism of chromosomal region 8p12-p21 identified as a recurrent homozygous deletion in human tumors.

机译：染色体区域8p12-p21的常见种系缺失多态性被确定为人类肿瘤中的一个纯合性重复缺失。

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A number of carcinomas show high frequency of loss of heterozygosity (LOH) at chromosome 8p, suggesting that putative tumor suppressor genes are present in this region. While searching for homozygous deletions in a panel of pancreatic and biliary tumors, we discovered a homozygous deletion at the microsatellite AFMa224wh5 in chromosome region 8p12-p21. We applied a six-step algorithm comprising germline analysis, breakpoint sequencing, population screening, online gene mapping, allelic discrimination of tumor-associated LOH, and family history analysis. The results indicated that the deletion was likely due to a normal 102-bp deletion polymorphism present in nearly 10% of the study population, not likely to involve a recessive cancer-associated gene. Researchers need to be aware that germline insertion/deletion polymorphisms can affect the results of positional cloning efforts in human neoplasms. This problem would be accentuated in studies of cell lines where a paired sample of constitutional DNA is often unavailable. Copyright 2001 Academic Press.
机译：许多癌在8p染色体上显示出杂合性（LOH）丢失的频率很高，表明该区域存在推定的抑癌基因。在一组胰腺和胆道肿瘤中寻找纯合缺失时，我们在8p12-p21染色体区域的微卫星AFMa224wh5处发现了纯合缺失。我们应用了六步算法，包括种系分析，断点测序，群体筛选，在线基因定位，肿瘤相关LOH的等位基因识别以及家族史分析。结果表明该缺失很可能是由于在将近10％的研究人群中存在正常的102 bp缺失多态性，不太可能涉及与癌症相关的隐性基因。研究人员需要意识到，种系插入/缺失多态性会影响人类肿瘤中位置克隆工作的结果。在细胞系的研究中，这个问题会更加突出，在这种细胞系中，通常没有成对的DNA样本。版权所有2001，学术出版社。

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