Pellegris G, Illeni M T, Rovini D, Vaglini M, Cascinelli N, Ghidoni A
Int J Cancer. 1982 Jun 15;29(6):621-3. doi: 10.1002/ijc.2910290604.
Six families with familial malignant melanoma (FMM) were HLA-A, -B, and -C typed to ascertain whether or not FMM would segregate with the HLA complex. The HLA-B12 antigen was present in five of the six families. In three families the HLA-FMM linkage could be analyzed: linkage was possible in two but not in the third. These findings suggested that two types of FMM may exist: a more frequent type (five cases) that apparently segregates with the HLA complex and another (one case) that does not segregate with the HLA complex. Moreover, a factor included in the HLA region or another factor linked to it may have played an important role, in five of the six families, in FMM pathogenesis, whereas in the sixth family its role may have been performed by some other factor. These findings are consistent with the hypothesis of two complementary factors (one of which was included in the HLA complex) for the promotion of FMM with dominant inheritance and high penetrance.
对六个患有家族性恶性黑色素瘤（FMM）的家庭进行了HLA - A、- B和 - C分型，以确定FMM是否会与HLA复合体发生连锁。六个家庭中有五个家庭存在HLA - B12抗原。在三个家庭中可以分析HLA - FMM的连锁关系：其中两个家庭可能存在连锁关系，而第三个家庭则不存在。这些发现表明可能存在两种类型的FMM：一种更常见的类型（五例），显然与HLA复合体发生连锁；另一种（一例）则不与HLA复合体发生连锁。此外，HLA区域中包含的一个因子或与其连锁的另一个因子，在六个家庭中的五个家庭中，可能在FMM发病机制中发挥了重要作用，而在第六个家庭中，其作用可能由其他一些因子发挥。这些发现与两个互补因子（其中一个包含在HLA复合体中）促进具有显性遗传和高外显率的FMM这一假设相一致。
