Gudmundsson J, Barkardottir R B, Eiriksdottir G, Baldursson T, Arason A, Egilsson V, Ingvarsson S
Department of Pathology, University and National Hospital of Iceland, Reykjavik.
Br J Cancer. 1995 Sep;72(3):696-701. doi: 10.1038/bjc.1995.396.
We examined DNA from 116 female and four male breast cancer patients for loss of heterozygosity (LOH). DNA was analysed by polymerase chain reaction using ten microsatellite markers on chromosome 11. Three distinct regions of LOH were identified: 11p15.5, 11q13 and 11q22-qter with a LOH frequency of 19, 23 and 37-43% respectively. The marker D11S969 showing the highest frequency of LOH (43%) is located at the 11q24.1-q25 region. No previous molecular genetic studies have shown frequent LOH at the region telomeric to q23 on chromosome 11. Southern analysis revealed that LOH at 11q13 was due to amplification, whereas LOH at 11q22qter was due to deletion. LOH at 11p15.5 was associated with paucity of hormone receptor proteins, high S-phase and positive node status. An association was found between LOH at 11q13 and positive node status. LOH at the 11q22-qter region correlated with a high S-phase fraction. A significant association was found between LOH at 11p15 and chromosome regions 17q21 (the BRCA1 region) and 3p.
我们检测了116例女性和4例男性乳腺癌患者的DNA,以研究杂合性缺失(LOH)情况。使用位于11号染色体上的10个微卫星标记,通过聚合酶链反应对DNA进行分析。确定了三个不同的LOH区域:11p15.5、11q13和11q22 - qter,其LOH频率分别为19%、23%和37 - 43%。显示最高LOH频率(43%)的标记D11S969位于11q24.1 - q25区域。此前尚无分子遗传学研究表明11号染色体上q23端粒区域存在频繁的LOH。Southern分析显示,11q13处的LOH是由于扩增,而11q22qter处的LOH是由于缺失。11p15.5处的LOH与激素受体蛋白缺乏、高S期和阳性淋巴结状态相关。发现11q13处的LOH与阳性淋巴结状态之间存在关联。11q22 - qter区域的LOH与高S期分数相关。在11p15处的LOH与17q21区域(BRCA1区域)和3p染色体区域之间发现了显著关联。