Norum R A, Lafreniere R G, O'Neal L W, Nikolai T F, Delaney J P, Sisson J C, Sobol H, Lenoir G M, Ponder B A, Willard H F
Department of Medicine, Henry Ford Hospital, Detroit, Michigan 48202.
Genomics. 1990 Oct;8(2):313-7. doi: 10.1016/0888-7543(90)90287-5.
The syndrome of multiple endocrine neoplasia type 2B (MEN 2B) resembles that of MEN 2A in that both include medullary carcinoma of the thyroid, pheochromocytoma, and autosomal dominant inheritance, but is distinct in that MEN 2B patients have neuromas of the mucous membranes. MEN2A has been linked to RBP3, D10S5, FNRB, D10S15, and D10Z1 near the centromere of chromosome 10. We examined linkage between MEN2B and RFLPs on chromosome 10 in all available members in two or three generations of 14 kindreds. The centromere marker D10Z1 was linked to MEN2B with a peak lod score of 5.42 at theta = 0.02. One possible recombinant was observed between D10Z1 and MEN2B. Multipoint analysis of RFLPs at FNRB, D10Z1, RBP3, and D10S15 gave a peak lod score of 7.12 at the midpoint between D10Z1 and RBP3 on the long arm (band q11). The most likely gene order FNRB-D10Z1-MEN2B was 27 times more likely than MEN2B-FNRB-D10Z1 and 31/2 times more likely than FNRB-MEN2B-D10Z1. Additional data will be required to establish the order of these loci with confidence.
2B型多发性内分泌腺瘤综合征（MEN 2B）与2A型多发性内分泌腺瘤综合征（MEN 2A）相似，二者均包括甲状腺髓样癌、嗜铬细胞瘤以及常染色体显性遗传，但不同的是，MEN 2B患者有黏膜神经瘤。MEN 2A与10号染色体着丝粒附近的RBP3、D10S5、FNRB、D10S15和D10Z1相关。我们在14个家系的两到三代所有可用成员中检测了MEN 2B与10号染色体上限制性片段长度多态性（RFLP）之间的连锁关系。着丝粒标记D10Z1与MEN 2B连锁，在θ = 0.02时最高连锁值为5.42。在D10Z1和MEN 2B之间观察到一个可能的重组体。对FNRB、D10Z1、RBP3和D10S15处的RFLP进行多点分析，在长臂（q11带）上D10Z1和RBP3之间的中点处最高连锁值为7.12。最可能的基因顺序FNRB-D10Z1-MEN 2B出现的可能性是MEN 2B-FNRB-D10Z1的27倍，是FNRB-MEN 2B-D10Z1的3.5倍。需要更多数据才能确定这些基因座的顺序。
