Olufemi S E, Green J S, Manickam P, Guru S C, Agarwal S K, Kester M B, Dong Q, Burns A L, Spiegel A M, Marx S J, Collins F S, Chandrasekharappa S C
Laboratory of Gene Transfer, National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-4442, USA.
Hum Mutat. 1998;11(4):264-9. doi: 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V.
Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with affected individuals developing parathyroid, gastrointestinal (GI) endocrine, and anterior pituitary tumors. Four large kindreds from the Burin peninsula/Fortune Bay area of Newfoundland with prominent features of prolactinomas, carcinoids, and parathyroid tumors (referred to as MEN1Burin) have been described, and they show linkage to 11q13, the same locus as that of MEN1. Haplotype analysis with 16 polymorphic markers now reveals that representative affected individuals from all four families share a common haplotype over a 2.5 Mb region. A nonsense mutation in the MEN1 gene has been found to be responsible for the disease in the affected members in all four of the MEN1Burin families, providing convincing evidence of a common founder.
家族性多发性内分泌腺瘤病1型（MEN1）是一种常染色体显性疾病，患者会发生甲状旁腺、胃肠道内分泌和垂体前叶肿瘤。已描述了来自纽芬兰伯林半岛/财富湾地区的四个大家族，其具有催乳素瘤、类癌和甲状旁腺肿瘤的显著特征（称为MEN1Burin），并且它们显示与11q13连锁，这与MEN1的基因座相同。使用16个多态性标记进行的单倍型分析现在显示，来自所有四个家族的代表性患者在一个2.5 Mb区域共享一个共同的单倍型。已发现MEN1基因中的一个无义突变是所有四个MEN1Burin家族中患病成员患病的原因，这为共同的奠基者提供了令人信服的证据。
