Newton Bishop J A, Bataille V, Pinney E, Bishop D T
Department of Dermatology, Royal London Hospital, Whitechapel.
Melanoma Res. 1994 Aug;4(4):199-206. doi: 10.1097/00008390-199408000-00001.
Thirteen families have been studied clinically as the basis for a linkage study of susceptibility to cutaneous melanoma. Previous studies have shown that a number of families with predisposition to melanoma have abnormal naevi, now known as the atypical mole syndrome (AMS) phenotype. Many groups performing linkage studies using families selected from geographical areas with higher rates of melanoma have concentrated on the diagnosis of melanoma to identify presumptive gene carriers. In the UK, in the absence of extended families with multiple cases of melanoma, we have attempted to identify gene carriers through the presence of the AMS phenotype. Previously the AMS phenotype has been poorly defined and so we have developed a scoring system to define the AMS in an attempt to allow for variation in expression among gene carriers. In this report, we document the clinical characteristics of all 13 families and the use of our scoring system. The pattern of inheritance within these selected families of the AMS phenotype with or without melanoma is consistent with a dominant gene.
我们对13个家族进行了临床研究，作为皮肤黑色素瘤易感性连锁研究的基础。先前的研究表明，许多有黑色素瘤易感性的家族存在异常痣，即现在所知的非典型痣综合征（AMS）表型。许多研究小组在从黑色素瘤发病率较高的地理区域选取的家族中进行连锁研究时，都集中于黑色素瘤的诊断以识别推定的基因携带者。在英国，由于缺乏有多个黑色素瘤病例的大家庭，我们试图通过AMS表型的存在来识别基因携带者。以前，AMS表型的定义不明确，因此我们开发了一种评分系统来定义AMS，试图考虑基因携带者之间表达的差异。在本报告中，我们记录了所有13个家族的临床特征以及我们评分系统的使用情况。这些选定家族中有无黑色素瘤的AMS表型的遗传模式与显性基因一致。
