Genetics of the multiple endocrine neoplasia type 2B syndrome.

Henry Ford Hospital medical journal Pub Date : 1992-01-01
C E Jackson, R A Norum
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引用次数: 0

Abstract

Multiple endocrine neoplasia type 2B (MEN 2B) is similar to MEN 2A in that both autosomal dominant syndromes include medullary thyroid cancers and pheochromocytomas. It is distinct in that MEN 2B patients have much earlier age of onset with more aggressive tumors and mucosal neuromas of the lips and tongue. The neuromas allow ascertainment generally before age 5. Studies of two and three generations of 14 MEN 2B families disclosed close linkage of the MEN 2B gene to DNA markers to which MEN2A had been linked. Multipoint analysis utilizing additional results in three generations of a 15th family have disclosed a peak total lod score of 8.89 at the midpoint between the centromere markers D10Z1 and RBP3 on the long arm (band q11). One recombinant was observed between D10Z1 and MEN2B, but this individual was not recombinant with D10S94. These studies suggest physical proximity of MEN2A and MEN2B but do not establish allelism for the gene(s).

多发性内分泌瘤2B型综合征的遗传学研究。
2B型多发性内分泌瘤(MEN 2B)与MEN 2A相似,常染色体显性综合征包括甲状腺髓样癌和嗜铬细胞瘤。不同的是,MEN 2B患者发病年龄更早,具有更强的侵袭性肿瘤和嘴唇和舌头的粘膜神经瘤。神经瘤一般在5岁前就能确诊。对14个MEN 2B家族的两代和三代的研究表明,MEN 2B基因与MEN2A所关联的DNA标记有密切的连锁关系。利用对第15个家族三代的额外结果进行多点分析,发现在长臂(波段q11)着丝粒标记D10Z1和RBP3之间的中点处,峰值总负载得分为8.89。在D10Z1和MEN2B之间观察到一个重组,但该个体与D10S94没有重组。这些研究表明MEN2A和MEN2B在物理上接近,但没有确定基因的等位基因。
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