1型多发性内分泌肿瘤（MEN 1）相关基因的精细定位。
Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1).
作者信息
Fujimori M, Wells S A, Nakamura Y
机构信息
Department of Biochemistry, Cancer Institute, Tokyo, Japan.
出版信息
Am J Hum Genet. 1992 Feb;50(2):399-403.
Abstract
We have constructed a high-resolution genetic linkage map in the vicinity of the gene responsible for multiple endocrine neoplasia type 1 (MEN1). The mutation causing this disease, inherited as an autosomal dominant, predisposes carriers to development of neoplastic tumors in the parathyroid, the endocrine pancreas, and the anterior lobe of the pituitary. The 12 markers on the genetic linkage map reported here span nearly 20 cM, and linkage analysis of MEN1 pedigrees has placed the MEN1 locus within the 8-cM region between D11S480 and D11S546. The markers on this map will be useful for prenatal or presymptomatic diagnosis of individuals in families that segregate a mutant allele of the MEN1 gene.
摘要
我们构建了一个与1型多发性内分泌腺瘤（MEN1）相关基因附近的高分辨率遗传连锁图谱。导致这种疾病的突变以常染色体显性方式遗传，使携带者易患甲状旁腺、内分泌胰腺和垂体前叶的肿瘤。本文报道的遗传连锁图谱上的12个标记跨度近20厘摩，对MEN1家系的连锁分析已将MEN1基因座定位于D11S480和D11S546之间8厘摩的区域内。该图谱上的标记将有助于对携带MEN1基因突变等位基因的家系中的个体进行产前或症状前诊断。
相似文献
1
Fine-scale mapping of the gene responsible for multiple endocrine neoplasia type 1 (MEN 1).1型多发性内分泌肿瘤（MEN 1）相关基因的精细定位。
Am J Hum Genet. 1992 Feb;50(2):399-403.
2
Genetic mapping studies of 40 loci and 23 cosmids in chromosome 11p13-11q13, and exclusion of mu-calpain as the multiple endocrine neoplasia type 1 gene.对11号染色体p13 - 11q13区域的40个基因座和23个黏粒进行基因定位研究，并排除μ - 钙蛋白酶作为1型多发性内分泌肿瘤基因。
Hum Genet. 1996 Jun;97(6):732-41. doi: 10.1007/BF02346182.
3
Identification of somatic mutations of the MEN1 gene in sporadic endocrine tumours.散发性内分泌肿瘤中MEN1基因体细胞突变的鉴定
Br J Cancer. 2000 Oct;83(8):1003-8. doi: 10.1054/bjoc.2000.1385.
4
Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.通过肿瘤中的缺失定位将MEN1基因定位于染色体11q13内的一个小区域。
Proc Natl Acad Sci U S A. 1990 Mar;87(5):1968-72. doi: 10.1073/pnas.87.5.1968.
5
Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11.1型多发性内分泌腺瘤病中的甲状旁腺肿瘤与11号染色体上等位基因缺失的关联。
N Engl J Med. 1989 Jul 27;321(4):218-24. doi: 10.1056/NEJM198907273210403.
6
Localization of the genetic defect in multiple endocrine neoplasia type 1 within a small region of chromosome 11.1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
Am J Hum Genet. 1989 May;44(5):751-5.
7
Variable regions of chromosome 11 loss in different pathological tissues of a patient with the multiple endocrine neoplasia type I syndrome.1型多发性内分泌肿瘤综合征患者不同病理组织中11号染色体可变区缺失
J Clin Endocrinol Metab. 1994 Nov;79(5):1498-502. doi: 10.1210/jcem.79.5.7962349.
8
Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1).16个患有1型多发性内分泌腺瘤病（MEN1）的日本家族中的胚系MEN1突变
Eur J Endocrinol. 1999 Nov;141(5):475-80. doi: 10.1530/eje.0.1410475.
9
Multiple endocrine neoplasia type 1: from bedside to benchside.1型多发性内分泌腺瘤病：从床边到实验台
J Med Invest. 2000 Aug;47(3-4):108-17.
10
Deletion mapping of endocrine tumors localizes a second tumor suppressor gene on chromosome band 11q13.
Genes Chromosomes Cancer. 1998 Jun;22(2):130-7. doi: 10.1002/(sici)1098-2264(199806)22:2<130::aid-gcc7>3.0.co;2-y.
引用本文的文献
1
Molecular Diagnosis of Multiple Endocrine Neoplasia (MEN) in Paraffin-Embedded Specimens.石蜡包埋标本中多内分泌腺瘤病（MEN）的分子诊断
Endocr Pathol. 1995 Winter;6(4):267-278. doi: 10.1007/BF02738727.
2
Molecular pathogenesis of acromegaly.肢端肥大症的分子发病机制。
Pituitary. 1999 Jun;2(1):43-50. doi: 10.1023/a:1009917920589.
3
Ordering genes: controlling the decision-error probabilities.排序基因：控制决策错误概率。
Am J Hum Genet. 1993 May;52(5):947-57.
4
Loss of heterozygosity and amplification on chromosome 11q in human ovarian cancer.人类卵巢癌中11号染色体q臂的杂合性缺失与扩增
Br J Cancer. 1993 Feb;67(2):268-73. doi: 10.1038/bjc.1993.51.
5
Multiple endocrine neoplasia type 1 (MEN1) in two Asian families.两个亚洲家族中的1型多发性内分泌肿瘤（MEN1）
Hum Genet. 1994 Nov;94(5):468-72. doi: 10.1007/BF00211009.
6
7
Homozygotes for the autosomal dominant neoplasia syndrome (MEN1).常染色体显性肿瘤综合征（MEN1）的纯合子。
Am J Hum Genet. 1993 Dec;53(6):1167-72.
8
Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity.家族性非嗜铬性副神经节瘤一个假定的印记基因在11号染色体q13.1区域的精细定位：遗传异质性的证据
Hum Genet. 1995 Jan;95(1):56-62. doi: 10.1007/BF00225075.
9
Presymptomatic testing for genetic diseases of later life. Pharmacoepidemiological considerations.晚年遗传性疾病的症状前检测。药物流行病学考量。
Drugs Aging. 1995 Aug;7(2):117-30. doi: 10.2165/00002512-199507020-00006.
10
Improved carrier testing for multiple endocrine neoplasia, type 1, using new microsatellite-type DNA markers.
Hum Genet. 1995 Oct;96(4):449-53. doi: 10.1007/BF00191805.
本文引用的文献
1
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
2
Localization of the genetic defect in familial adenomatous polyposis within a small region of chromosome 5.家族性腺瘤性息肉病基因缺陷在5号染色体一小区域内的定位。
Am J Hum Genet. 1988 Nov;43(5):638-44.
3
A primary genetic map of markers of human chromosome 10.人类10号染色体标记的初步遗传图谱。
Genomics. 1988 Feb;2(2):157-64. doi: 10.1016/0888-7543(88)90098-5.
4
Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma.多发性内分泌腺瘤1型基因定位于11号染色体，在胰岛素瘤中缺失。
Nature. 1988 Mar 3;332(6159):85-7. doi: 10.1038/332085a0.
5
A standardized meal stimulation test of the endocrine pancreas for early detection of pancreatic endocrine tumors in multiple endocrine neoplasia type 1 syndrome: five years experience.用于早期检测1型多发性内分泌腺瘤综合征中胰腺内分泌肿瘤的内分泌胰腺标准化餐刺激试验：五年经验
J Clin Endocrinol Metab. 1987 Jun;64(6):1233-40. doi: 10.1210/jcem-64-6-1233.
6
Localization of the genetic defect in multiple endocrine neoplasia type 1 within a small region of chromosome 11.1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
Am J Hum Genet. 1989 May;44(5):751-5.
7
Isolation and mapping of a polymorphic DNA sequence for human muscle glycogen phosphorylase (pMCMP1) on chromosome II [PYGM].人类肌肉糖原磷酸化酶（pMCMP1）位于11号染色体[PYGM]上的多态性DNA序列的分离与定位
Nucleic Acids Res. 1988 Nov 11;16(21):10403. doi: 10.1093/nar/16.21.10403.
8
Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors.通过肿瘤中的缺失定位将MEN1基因定位于染色体11q13内的一个小区域。
Proc Natl Acad Sci U S A. 1990 Mar;87(5):1968-72. doi: 10.1073/pnas.87.5.1968.
9
Allelic loss on chromosome 11 in hereditary and sporadic tumors related to familial multiple endocrine neoplasia type 1.
Cancer Res. 1991 Feb 15;51(4):1154-7.
10
Isolation and mapping of 62 new RFLP markers on human chromosome 11.人类11号染色体上62个新的限制性片段长度多态性（RFLP）标记的分离与定位。
Am J Hum Genet. 1991 Feb;48(2):258-68.
Zotero 插件