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10号染色体上与2A型多发性内分泌腺瘤相关的遗传标记

A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10.

作者信息

Mathew C G, Chin K S, Easton D F, Thorpe K, Carter C, Liou G I, Fong S L, Bridges C D, Haak H, Kruseman A C

出版信息

Nature. 1987;328(6130):527-8. doi: 10.1038/328527a0.

DOI:10.1038/328527a0
PMID:2886917
Abstract

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominantly inherited cancer syndrome characterized by medullary carcinoma of the thyroid, phaeochromocytoma and hyperparathyroidism. Almost all gene carriers can be detected by screening tests before the age of 40, but the nature and location of the predisposing gene are unknown. Simpson et al. recently reported preliminary evidence for linkage between the DNA probe p9-12A on chromosome 10 and MEN2A. We now report linkage between the MEN2A locus and the interstitial retinol-binding protein gene, which is located on chromosome 10p11.2-q11.2.

摘要

2A型多发性内分泌腺瘤病(MEN2A)是一种常染色体显性遗传癌症综合征,其特征为甲状腺髓样癌、嗜铬细胞瘤和甲状旁腺功能亢进。几乎所有基因携带者在40岁之前都可通过筛查检测出来,但易感基因的性质和位置尚不清楚。辛普森等人最近报告了10号染色体上的DNA探针p9 - 12A与MEN2A之间存在连锁关系的初步证据。我们现在报告MEN2A基因座与位于10号染色体p11.2 - q11.2的间质视黄醇结合蛋白基因之间存在连锁关系。

相似文献

1
A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10.10号染色体上与2A型多发性内分泌腺瘤相关的遗传标记
Nature. 1987;328(6130):527-8. doi: 10.1038/328527a0.
2
Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage.通过连锁分析将2A型多发性内分泌腺瘤定位到10号染色体。
Nature. 1987;328(6130):528-30. doi: 10.1038/328528a0.
3
The mapping of the locus for multiple endocrine neoplasia type 2A by linkage with chromosome 10 markers.通过与10号染色体标记连锁分析对2A型多发性内分泌腺瘤病基因座的定位。
Horm Metab Res Suppl. 1989;21:5-9.
4
Mapping of the genes around MEN2A locus using pulsed-field gel electrophoresis.
Jinrui Idengaku Zasshi. 1990 Dec;35(4):325-30. doi: 10.1007/BF01883755.
5
Multiple endocrine neoplasia.多发性内分泌肿瘤
Cancer Surv. 1990;9(4):703-23.
6
Screening for multiple endocrine neoplasia type 2a with DNA-polymorphism analysis.通过DNA多态性分析筛查2a型多发性内分泌腺瘤病
N Engl J Med. 1989 Oct 12;321(15):996-1001. doi: 10.1056/NEJM198910123211502.
7
Mapping the inherited defects associated with multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and familial medullary thyroid carcinoma to chromosome 10 by linkage analysis.
Endocrinol Metab Clin North Am. 1994 Mar;23(1):177-85.
8
Genetics of the multiple endocrine neoplasia type 2B syndrome.2B型多发性内分泌腺瘤综合征的遗传学
Henry Ford Hosp Med J. 1992;40(3-4):232-5.
9
The oncogene associated with human papillary thyroid carcinoma (PTC) is assigned to chromosome 10 q11-q12 in the same region as multiple endocrine neoplasia type 2A (MEN2A).
Oncogene. 1989 Apr;4(4):521-3.
10
Deletion of genes on chromosome 1 in endocrine neoplasia.内分泌肿瘤中1号染色体上基因的缺失。
Nature. 1987;328(6130):524-6. doi: 10.1038/328524a0.

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Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.遗传性甲状腺髓样癌:基因型与表型的相关性
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2
Epidemiology, Clinical Presentation, and Diagnosis of Medullary Thyroid Carcinoma.甲状腺髓样癌的流行病学、临床表现及诊断
Recent Results Cancer Res. 2025;223:93-127. doi: 10.1007/978-3-031-80396-3_4.
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Personalized Systemic Therapies in Hereditary Cancer Syndromes.遗传性癌症综合征中的个体化系统治疗。
Genes (Basel). 2023 Mar 9;14(3):684. doi: 10.3390/genes14030684.
4
The utility of some modern techniques in understanding thyroid pathology.一些现代技术在理解甲状腺病理学方面的效用。
Endocr Pathol. 1990 Jun;1(2):68-84. doi: 10.1007/BF02915622.
5
Germline Mutation Detected in a Multiple Endocrine Neoplasia Type 2 Case With Codon 634 Mutation.在一例伴有密码子634突变的2型多发性内分泌腺瘤病病例中检测到胚系突变。
Front Genet. 2019 Jun 11;10:544. doi: 10.3389/fgene.2019.00544. eCollection 2019.
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Role of CDKN2C Fluorescence In Situ Hybridization in the Management of Medullary Thyroid Carcinoma.CDKN2C荧光原位杂交在甲状腺髓样癌管理中的作用
Ann Clin Lab Sci. 2017 Sep;47(5):523-528.
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Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.甲状旁腺癌的综合征型和非综合征型的分子遗传学。
Hum Mutat. 2017 Dec;38(12):1621-1648. doi: 10.1002/humu.23337. Epub 2017 Sep 25.
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Medullary thyroid carcinoma: a 30-year experience at one institution in Korea.甲状腺髓样癌:韩国一家机构30年的经验。
Ann Surg Treat Res. 2016 Dec;91(6):278-287. doi: 10.4174/astr.2016.91.6.278. Epub 2016 Nov 25.
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Multiple Endocrine Neoplasia: A Genetically Diverse Group of Familial Tumor Syndromes.多发性内分泌腺瘤病:一组具有遗传多样性的家族性肿瘤综合征。
J Pediatr Genet. 2016 Jun;5(2):89-97. doi: 10.1055/s-0036-1579758. Epub 2016 Mar 9.
10
MEN 2A-related cutaneous lichen amyloidosis: report of three kindred and systematic literature review of clinical, biochemical and molecular characteristics.与2A型多发性内分泌腺瘤相关的皮肤苔藓样淀粉样变:三个家系报告及临床、生化和分子特征的系统文献综述
Fam Cancer. 2016 Oct;15(4):625-33. doi: 10.1007/s10689-016-9892-6.