Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage
Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage
复制标题
通过连锁将 2A 型多发性内分泌肿瘤分配至 10 号染色体
作者：
N. Simpson;K. Kidd;P. Goodfellow;H. McDermid;S. Myers;J. Kidd;C. Jackson;A. Duncan;L. Farrer;K. Brasch;C. Castiglione;M. Genel;J. Gertner;C. Greenberg;J. Gusella;J. A. Holden;B. White
多发性内分泌肿瘤2A型（MEN2A）是几种似乎以常染色体显性方式遗传的癌症之一。我们通过与一个新的DNA标记（D10S5）连锁，将MEN2A位点分配到10号染色体上。这种连锁使我们研究了其他10号染色体标记，并证明了疾病位点和间质视黄醇结合蛋白（IRBP）基因之间的连锁1。通过原位杂交将D10S5基因定位于10q21.1，IRBP基因定位于p11.2→ q11.2，第二位点位于q24→q251。利用5个家系的292个成员，D10S5位点的3个不同的限制性片段长度多态性（RFLPs）和IRBP探针识别的2个RFLPs建立了连锁关系。两个标记位点DIGS5和IRBP的重组频率分别为0.19和0.11，最大lod值分别为3.6和8.0。通过多点分析对这三个位点进行排序，IRBP基因大约位于疾病和D10S5位点之间。
Multiple endocrine neoplasis type 2A (MEN2A) is one of several kinds of cancers that appear to be inherited in an autosomally dominant fashion. We have assigned the MEN2A locus to chromosome 10 by linkage with a new DNA marker (D10S5). The linkage led us to investigate other chromosome 10 markers and demonstrate linkage between the disease locus and the interstitial retinol-binding protein (IRBP) gene1. The D10S5 locus was sublocalized to 10q21.1 by hybridization in situ2 and the IRBP gene to p11.2→ q11.2 with a secondary site at q24→q251 The linkages were established using 292 members of five families, three different restriction fragment length polymorphisms (RFLPs) at D10S5 and two RFLPs recognized by the IRBP probe. The recombination frequencies from pairwise linkage analysis between the disease and two marker loci DIGS5 and IRBP were 0.19 and 0.11, with maximum lod scores of 3.6 and 8.0 respectively. Ordering of the three loci by multipoint analysis placed the IRBP gene approximately midway between the disease and D10S5 loci.