Kharkevich G Iu, Kazubskaia T P, Agapova R K, Musatov V K, Trubnikov V I, Demidov L V, Gar'kavtseva R F
Genetika. 1995 Nov;31(11):1562-5.
Evidence for the role of dysplastic nevi (DN) in the development of cutaneous malignant melanoma (CMM) is presented. Primary multiple foci of CMM were found considerably more frequently in individuals with DN. The frequency of primary multiple CMM was found to be 3.1% in males with DN and 0.9% in males without DN; in females, 6.8 and 0.6%, respectively. Genetic correlation analysis was performed to determine the genetic interrelation between DN and CMM. In general, the genetic correlation coefficient was 0.9; i.e., predisposition to DN and CMM is determined by common genes for 90%. The frequency and distribution of constitutive fragile sites in chromosomes of peripheral lymphocytes was studied by the method of principal components for discrete variables. The site 1p22 is responsible for variability of the traits CMM and DN for 98.5%. On the one hand, this suggests that one of the supposed genes for CMM can be located at 1p22; on the other hand, CMM and DN are likely to have a common genetic determination or to be very tightly linked. Estimates of risk for the development of CMM in patients' relatives are given with reference to the variants of CMM manifestation and presence of DN.
本文介绍了发育异常痣（DN）在皮肤恶性黑色素瘤（CMM）发生中的作用证据。在患有DN的个体中，原发性多发性CMM病灶的发现频率要高得多。发现患有DN的男性原发性多发性CMM的频率为3.1%，未患DN的男性为0.9%；在女性中，分别为6.8%和0.6%。进行了遗传相关性分析以确定DN和CMM之间的遗传关系。总体而言，遗传相关系数为0.9；即，90%的DN和CMM易感性由共同基因决定。采用离散变量主成分分析法研究了外周血淋巴细胞染色体中组成型脆性位点的频率和分布。1p22位点对CMM和DN性状变异的贡献率为98.5%。一方面，这表明推测的CMM相关基因之一可能位于1p22；另一方面，CMM和DN可能具有共同的遗传决定因素或紧密连锁。根据CMM表现的变异情况和DN的存在情况，给出了患者亲属发生CMM的风险估计。
