STUDIES OF ALPHA-1-ANTITRYPSIN PHENOTYPES

ALPHA-1-抗胰蛋白酶表型的研究

• 批准号: 4690018
• 负责人: E ANTHONY JONES
• 金额: --
• 依托单位: NAT INST OF ARTHRITIS, DIABETES, DIGESTIVE & 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/4690018
• 关键词: African; Sjogren's syndrome; affinity chromatography; alpha 1 antitrypsin; alpha 1 antitrypsin deficiency; blood chemistry; electrofocusing; emphysema; enzyme complex; gel electrophoresis; gel filtration chromatography; gene expression; genetic disorder diagnosis; human subject; human tissue; immunochemistry; immunoelectrophoresis; ion exchange chromatography; liver disorder; liver metabolism; liver neoplasms; membrane activity; molecular pathology; orphan disease /drug; population genetics; protease inhibitor; radionuclide diagnosis; radiotracer; rheumatoid arthritis; sialate; systemic lupus erythematosus; tissue /cell culture; urinalysis

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 phenotype 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.

蛋白酶抑制剂（Pi）表型已确定使用等电 关注正常受试者人群中的聚丙烯酰胺凝胶， 类风湿性关节炎、系统性红斑狼疮、干燥综合征患者 综合征和肝细胞癌。 80年代南部非洲 黑人肝癌患者中， （非MM）表型为8.7%。 在103名年龄、性别和部落匹配的 对照组相应发生率为12.6%。 概无 患者或对照具有PiZZ表型。 5%的患者和1.9%的 对照组为Z基因杂合子携带者。 没有患者出现 肝细胞癌患者的血清浓度低于正常水平， α-1-抗胰蛋白酶，通过火箭免疫电泳评估。 的 4例杂合子Z表型患者没有纤维板层 癌 这些发现表明，α-1-抗胰蛋白酶缺乏症 在美国南部的肝细胞癌中， 非洲黑人