STUDIES OF ALPHA-1-ANTITRYPSIN PHENOTYPES AND METABOLISM

ALPHA-1-抗胰蛋白酶表型和代谢的研究

• 批准号: 3941102
• 负责人: E ANTHONY JONES
• 金额: --
• 依托单位: NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/3941102
• 关键词: Africa; alpha 1 antitrypsin deficiency; electrofocusing; gene expression; heterozygote; human subject; human tissue; immunoelectrophoresis; liver neoplasms; neoplasm /cancer epidemiology; neoplasm /cancer genetics; population genetics

Protease inhibitor (Pi) phenotypes have been determined using isoelectric focusing on polyacrylamide gel in populations of normal subjects and patients with rheumatoid arthritis, systemic lupus erythematosus, Sjogren's syndrome and hepatocellular carcinoma. Of 80 unselected southern African Black patients with hepatocellular carcinoma, the incidence of aberrant (non- MM) phenotypes was 8.7%. In 103 age, sex and tribally-matched control subjects the corresponding incidence was 12.6%. None of the patients or controls had the PiZZ phenotype. 5% of patients and 1.9% of controls were heterozygous carriers of the Z gene. No patient with hepatocellular carcinoma had a subnormal serum concentration of alpha-1-antitrypsin, as assessed by rocket immuno-electrophoresis. The four patients with the heterozygous Z phenotypes did not have fibrolamellar carcinomas. These findings suggest that alpha-1-antitrypsin deficiency does not play an etiologic role in hepatocellular carcinoma in southern African Blacks.

蛋白酶抑制物(PI)的表型已经用 等电点聚焦在种群中的聚丙烯酰胺凝胶 正常人和类风湿关节炎患者，系统性 红斑狼疮、干燥综合征与肝细胞 癌症。80名未经选择的南部非洲黑人患者 对于肝细胞癌，变异(非 Mm)表型占8.7%。在103个年龄，性别和部落匹配 对照组相应发生率为12.6%。没有一个 患者组或对照组均为Pizz表型。5%的患者 对照组中有1.9%为Z基因杂合子携带者。 没有一例肝细胞癌患者的血清低于正常 用火箭测定α-1-抗胰蛋白酶的浓度 免疫电泳法。4例杂合子患者 Z表型无纤维板层癌。这些 研究结果表明，α-1-抗胰蛋白酶缺乏症不起作用 南非人肝细胞癌的病因学作用 黑人。