1号染色体部分三体中富马酸水合酶（FH；E.C. 4.2.1.2）的基因剂量效应。

Gene dosage effect for fumarate hydratase (FH; E.C. 4.2.1.2) in partial trisomy 1.

作者信息

Braunger R, Kling H, Krone W, Schmid M, Olert J

出版信息

Hum Genet. 1977 Aug 31;38(1):65-75. doi: 10.1007/BF00295809.

Abstract

A strain of fibroblasts partially trisomic for the larger part of 1q (Norwood and Hoehn, 1974) contains about 1.5 times as much fumarate hydratase (FH) as various control-strains. This gene dosage effect was ascertained by (1) comparative measurements of the specific activity; (2) relating the specific activity of FH to that of reference enzymes, not influenced by the chromosomal anomaly; and (3) by immunoprecipitation methods, using a rabbit antiserum against pig heart FH which cross-reacts with the human enzyme. Among others, this gene dosage effect can be demonstrated numerically by the following parameters: Ratio of the average specific activity of FH in the trisomic strain to that of the control strains: 1.53. Corresponding ratio after dividing FH activity by that of reference enzymes; for acid phosphatase: 1.58, for glutamate dehydrogenase: 1.53. Average ratio of the immunoprecipitation areas obtained upon radial immunodiffusion according to Mancini et al. (1965): 1.56.

摘要

一株在1q大部分区域部分三体的成纤维细胞系（诺伍德和赫恩，1974年）所含的延胡索酸水合酶（FH）约为各种对照细胞系的1.5倍。这种基因剂量效应通过以下方式确定：（1）对比活性进行比较测量；（2）将FH的比活性与不受染色体异常影响的参照酶的比活性相关联；（3）通过免疫沉淀法，使用针对猪心FH的兔抗血清，该抗血清与人类酶发生交叉反应。除此之外，这种基因剂量效应可以通过以下参数以数字方式证明：三体细胞系中FH的平均比活性与对照细胞系的平均比活性之比：1.53。将FH活性除以参照酶活性后的相应比值；对于酸性磷酸酶：1.58，对于谷氨酸脱氢酶：1.53。根据曼奇尼等人（1965年）的方法，在放射免疫扩散中获得的免疫沉淀区域的平均比值：1.56。