人类γ-氨基丁酸转氨酶的生化遗传学

The biochemical genetics of human gamma-aminobutyric acid transaminase.

Jeremiah S, Povey S

Ann Hum Genet. 1981 Jul;45(3):231-6. doi: 10.1111/j.1469-1809.1981.tb00334.x.

Abstract

Two methods have been devised for the detection after electrophoresis of gamma-aminobutyric acid transaminase (GABAT) isozymes. 2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis. spinal cord and upper jejunum. The greatest activity occurs in liver. 3. Three different commonly occurring electrophoretic types of GABAT have been identified. It seems likely that they are determined by two alleles at an autosomal locus (GABAT). 4. The gene frequencies of GABAT1 and GABAT2 in a random sample of European livers were 0.56 and 0.44 respectively. 5. The three banded patterns seen in heterozygotes suggest that GABAT is a dimeric enzyme. 6. GABA, beta-alanine and 5-aminovaleric acid can act as substrates for GABAT. 7. GABAT activity can be demonstrated in all areas of human brain with the exception of the corpus callosum. Brain samples from patients with Huntington's chorea show no abnormal GABAT activity or unusual phenotypes.

摘要

已设计出两种方法用于在γ-氨基丁酸转氨酶（GABAT）同工酶电泳后进行检测。2. GABAT同工酶可在肝脏、大脑、肾脏、胰腺、心脏、睾丸、脊髓和空肠上段检测到。其活性在肝脏中最高。3. 已鉴定出三种常见的GABAT电泳类型。它们似乎由常染色体位点（GABAT）上的两个等位基因决定。4. 在欧洲肝脏的随机样本中，GABAT1和GABAT2的基因频率分别为0.56和0.44。5. 杂合子中出现的三条带模式表明GABAT是一种二聚体酶。6. GABA、β-丙氨酸和5-氨基戊酸可作为GABAT的底物。7. 除胼胝体外，人脑的所有区域均可显示GABAT活性。亨廷顿舞蹈症患者的脑样本未显示异常的GABAT活性或异常表型。