1型多发性内分泌肿瘤基因缺陷在11号染色体一小区域内的定位
Localization of the genetic defect in multiple endocrine neoplasia type 1 within a small region of chromosome 11.
作者信息
Nakamura Y, Larsson C, Julier C, Byström C, Skogseid B, Wells S, Oberg K, Carlson M, Taggart T, O'Connell P
机构信息
Howard Hughes Medical Institute, University of Utah School of Medicine, Salt Lake City 84132.
出版信息
Am J Hum Genet. 1989 May;44(5):751-5.
Abstract
Multiple endocrine neoplasia type I (MEN-1), a Mendelian disorder with an autosomal dominant mode of inheritance, causes hyperplasia in the parathyroid glands and hyperplasia or neoplasm in the anterior pituitary gland and/or the pancreatic islets. The genetic defect responsible for MEN-1 in three families was recently mapped to the long arm of chromosome II by linkage between the MEN-1 locus and the gene for skeletal muscle glycogen phosphorylase (PYGM) at 11q13. We have constructed a genetic linkage map of seven markers in the vicinity of the MEN-1 locus that has allowed us to map more precisely the gene associated with MEN-1; the target region has been narrowed to about 12 cM. The closely linked markers will be useful also for identification of likely carriers in families in which an allele responsible for MEN-1 segregates.
摘要
多发性内分泌腺瘤病I型（MEN - 1）是一种具有常染色体显性遗传模式的孟德尔疾病，可导致甲状旁腺增生以及垂体前叶和/或胰岛增生或肿瘤形成。最近，通过MEN - 1位点与位于11q13的骨骼肌糖原磷酸化酶（PYGM）基因之间的连锁分析，确定了三个家族中导致MEN - 1的基因缺陷位于11号染色体长臂上。我们构建了一个MEN - 1位点附近七个标记的遗传连锁图谱，这使我们能够更精确地定位与MEN - 1相关的基因；目标区域已缩小至约12厘摩。这些紧密连锁的标记对于识别MEN - 1致病等位基因在其中分离的家族中可能的携带者也将很有用。
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