Guillausseau P J, Guillausseau C, Calmettes C, Feingold N, Demenais F, Sobol H, Gony J, Hors J, Schaison G, Seret D
Service d'Endocrinologie, Hôpital Lariboisière, Paris.
Ann Endocrinol (Paris). 1988;49(1):17-21.
In a large kindred with multiple endocrine neoplasia type 2a (MEN 2a) (137 members, 5 generations), bilateral thyroid medullary carcinoma was found in all affected members. Pheochromocytoma was present in 59% of the cases, and was responsible at least for 4 out the 5 deaths related to MEN 2a. Hyperparathyroidism was less frequent (41%). Family screening leads to a reduction in age for diagnosis and to an improvement in the prevalence of complete healing after surgery. Linkage between HLA loci and a dominant gene for MEN 2a was investigated in this kindred. Lod scores for recombination fraction were all negative (-0.47 for a recombination fraction of 0.05). These results comfort the lack of linkage between MEN 2a and the HLA complex.
在一个患有2a型多发性内分泌腺瘤病（MEN 2a）的大家族（137名成员，5代）中，所有患病成员均发现双侧甲状腺髓样癌。59%的病例存在嗜铬细胞瘤，且至少导致了5例与MEN 2a相关死亡中的4例。甲状旁腺功能亢进的发生率较低（41%）。家族筛查降低了诊断年龄，并提高了术后完全治愈的患病率。在这个家族中研究了HLA位点与MEN 2a显性基因之间的连锁关系。重组率的Lod分数均为阴性（重组率为0.05时为-0.47）。这些结果支持MEN 2a与HLA复合体之间不存在连锁关系。
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