SDHB基因突变分析TITLEAnalysisofSDHDandSDHBgenemutationsinparagangliomas一级学科:临床医学二级学科:肿瘤学论文作者:**指导教师:**教授天津医科大学研究生院二00A年五月天津医科大学硕士学位论文中文摘要目的初步了解SDHD、SDHB基因突变在国人副神经节瘤(paraganglioma,PGL)患者中的发生状况,比较其突变位点与国外异同,为...
ParagangliomaPheochromocytomaSDHDImprintingParent-of-originBackground The SDHD gene encodes a subunit of the mitochondrial tricarboxylic acid cycle enzyme and tumor suppressor, succinate dehydrogenase. Mutations in this gene show a remarkable pattern of parent-of-origin related tumorigenesis, with almost all...
275 Given the high frequency of germline mutations in paraganglioma cases, diagnosis should prompt consideration of genetic testing.276 Recently a Dutch founder mutation in SDHD, c.274G>T, p.Asp92Tyr, was found to account for 69.1% of all Dutch carriers of a mutation in an SDH gene; the...
suggesting that SDHD also plays a role as a tumor-suppressor gene.In one family with a nonsense mutation (R22X) in the SDHD gene,a loss of heterozygosity was found in the paragangliomas,and within these tumors the enzymatic activity of Complex II in the mitochondrial respiratory chain was ...
Genetic status Paraganglioma patients in family FGT189 were shown to harbor the D92Y missense mutation (g.7882 T4C; Asp92Tyr) in the SDHD gene.21 This Dutch founder mutation was detected by direct sequencing of PCR products obtained from peripheral blood lymphocyte DNA, as described previously....
Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma. Hereditary paraganglioma syndrome has recently been shown to be caused by germline heterozygous mutations in three ( SDHB, SDHC, and SDHD) of the four gene... S Vanharanta,M Buchta...
由于神经嵴起源的肿瘤可位于腹主动脉旁等肾上腺外,故又将肾上腺外嗜铬细胞瘤称为副神经节瘤(Paraganglioma,PGL)。临床上,嗜铬细胞瘤以分泌大量儿茶酚胺激素所引起的阵发性血压升高伴“头痛、心悸、出汗”三联症和高代谢症候群为主要特点,是继发性高血压的重要原因之一。若不进行及时诊断和治疗,可造成心、脑血管意外,...
suggesting that SDHD also plays a role as a tumor-suppressor gene. In one family with a nonsense mutation (R22X) in the SDHD gene, a loss of heterozygosity was found in the paragangliomas, and within these tumors the enzymatic activity of Complex II in the mitochondrial respiratory chain ...
Objective: Succinate dehydrogenase complex, subunit D (SDHD) gene mutations are most commonly associated with head and neck paragangliomas. We describe a pair of cases with early-onset, bilateral pheochromocytoma (PCC) and paraganglioma (PGL) syndrome associated with SDHD mutation. Methods: We ...
Birke, BauschRobin, MunkJörg, SchipperStefan, HoegerleDietmar P., BergerNikolaus, BöhmHartmut P.H., Neumann. (2003) SDHD mutations in carotid body tumors and pheochromocytomas: paraganglioma syndrome type 1. Current Opinion in Endocrinology and Diabetes 10 , 197-204 /...