Demenais F, Cesarini J P, Daveau M, Cavelier B, Gony J, Feingold N, Hors J
J Med Genet. 1984 Dec;21(6):429-35. doi: 10.1136/jmg.21.6.429.
In seven pedigrees displaying the familial atypical multiple mole-melanoma (FAMMM) syndrome, three successive linkage analyses were performed between HLA and an assumed dominant gene determining respectively each of the following affected phenotypes: (1) precursor lesions, (2) cutaneous malignant melanoma (CMM), and (3) precursor lesions or CMM or both. Close linkage could be excluded in (1) and (3). However, if the transmission of malignant melanoma itself were assumed to be due to a single gene different from the one responsible for precursor lesions, a maximum lod score of 1.64 was observed at a recombination fraction of 5%, assuming low penetrance values. These different results are discussed in respect to the possible mechanisms causing the familial distribution of these traits. Two alternative hypotheses were proposed. Either the FAMMM syndrome is a rare genetic entity not closely linked to HLA or the association and transmission of precursor lesions and CMM in families are due to several factors among which HLA might play a role.
在七个显示家族性非典型多发性痣-黑色素瘤（FAMMM）综合征的家系中，分别对HLA与一个假定的显性基因进行了三次连续的连锁分析，该显性基因分别决定以下每种受累表型：（1）前驱病变，（2）皮肤恶性黑色素瘤（CMM），以及（3）前驱病变或CMM或两者。在（1）和（3）中可以排除紧密连锁。然而，如果假定恶性黑色素瘤本身的传递是由一个不同于负责前驱病变的基因引起的，那么在重组率为5%且假定低外显率值的情况下，观察到最大对数优势得分为1.64。针对导致这些性状家族性分布的可能机制，对这些不同结果进行了讨论。提出了两种替代假说。要么FAMMM综合征是一种与HLA没有紧密连锁的罕见遗传实体，要么家族中前驱病变和CMM的关联及传递是由多种因素导致的，其中HLA可能起作用。
