Debelenko L V, Emmert-Buck M R, Manickam P, Kester M, Guru S C, DiFranco E M, Olufemi S E, Agarwal S, Lubensky I A, Zhuang Z, Burns A L, Spiegel A M, Liotta L A, Collins F S, Marx S J, Chandrasekharappa S C
Laboratory of Pathology, National Cancer Institute, NIH, Bethesda, Maryland 20892, USA.
Cancer Res. 1997 Mar 15;57(6):1039-42.
Multiple endocrine neoplasia type 1 (MEN1) is an inherited syndrome characterized by development of multiple endocrine tumors in affected individuals. The gene responsible for the disease has been mapped to chromosome 11q13 by linkage analysis, but the gene itself has not yet been identified. We allelotyped 33 affected individuals from an extensive MEN1 kindred using eight polymorphic markers located on chromosome 11q13, including two new markers (D11S4907 and D11S4908) that we derived and mapped to the SEA-D11S913 region. Analysis of affected individuals revealed two separate recombination events, providing new centromeric and telomeric boundaries for the MEN1 gene. The present data indicate the MEN1 gene is located between markers D11S1883 and D11S4907, an approximate 2 Mb region on chromosome 11q13.
多发性内分泌腺瘤1型(MEN1)是一种遗传性综合征,其特征是受影响个体发生多发性内分泌肿瘤。通过连锁分析已将导致该疾病的基因定位到染色体11q13,但该基因本身尚未确定。我们使用位于染色体11q13上的八个多态性标记对一个广泛的MEN1家系中的33名受影响个体进行了等位基因分型,其中包括我们推导并定位到SEA-D11S913区域的两个新标记(D11S4907和D11S4908)。对受影响个体的分析揭示了两个独立的重组事件,为MEN1基因提供了新的着丝粒和端粒边界。目前的数据表明,MEN1基因位于标记D11S1883和D11S4907之间,这是染色体11q13上一个约2 Mb的区域。