Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: a double-blind study.
Chromosome 20 deletion in human multiple endocrine neoplasia types 2A and 2B: a double-blind study.
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人类多发性内分泌肿瘤 2A 型和 2B 型中的 20 号染色体缺失：一项双盲研究。
DOI：
10.1073/pnas.81.8.2525
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发表时间：
1984
影响因子：
11.1
通讯作者：
Jackson,CE
中科院分区：
文献类型：
--
作者：
Babu,VR;VanDyke,DL;Jackson,CE
Multiple endocrine neoplasia type 2A and 2B (MEN-2A and MEN-2B) are autosomal dominantly inherited syndromes in which medullary thyroid cancers are associated with adrenal pheochromocytomas. A double-blind analysis of high-resolution G-banded chromosomes was performed on blood specimens from patients in four MEN-2A families and five MEN-2B (mucosal neuroma phenotype) families and from control subjects. Excluding studies on duplicate blood specimens, 9 of 11 control subjects were scored as having normal chromosomes 20, and 11 of 14 MEN-2 patients were scored as having chromosomal deletion: del(20)(p12.2p12.2) (phi 2 = 9.00; P less than 0.001). Two new mutant MEN-2B patients had apparently normal chromosomes 20. These findings demonstrate that the dominant mutation in most MEN-2A and MEN-2B families is a visible chromosome deletion within band 20p12.2.
