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世界核心医学期刊文摘（皮肤病学分册） 2006年第3期2卷 36-37页

作者： Lang J. boxerm. MacKie R.M. 焦婷 Duncan Guthrie Institute of Medical Genetics Royal Hospital for Sick Children University of Glasgow Glasgow United Kingdom

Background: Up to 5% of patientswith melanoma have a family history of a first-degree relative also being affected. Objectives: To study such families for germline mutations, to help clarify the gene-environment interaction in melanoma aetiology. Methods: Thirty-two families in Scotland with melanoma in two or more first-degree relatives are reported for the first time. Peripheral blood DNA was extracted, and denaturing high-performance liquid chromatography analysis performed on exons 1 α and 2 of the CDKN2A gene and their splice junctions. The coding sequences and splice junctions of these exons were sequenced in all samples as confirmation of the chromatographic pattern observed. Results: Seven of the 32 melanoma families (22% ) have CDKN2A mutations. One mutation, H83N, which has not previously been described in melanoma families, was found in one family. In addition, two families have R112G mutations, one family has a G67R mutation, one has an exon 1 α 24-bp duplication where bases 9- 32 are duplicated between bases 32 and 33, and two families have M53I mutations, bringing the total of known Scottish families with the M53I mutation to six. Conclusions: This study brings the total of Scottish families investigated for germlinemutations to 48, and strongly suggests that the M53I mutation originated in Scotland.

关键词： CDKN2A基因皮肤黑色素瘤种系突变家族史苏格兰变性高效液相色谱法新发外周血DNA 一级亲属基因-环境

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