Wang T R, Hou J W, Tsai H M
Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1990 Jul-Aug;31(4):221-5.
Ornithine transcarbamylase (OTC) (EC 2.1.3.3) is an hepatic mitochondrial enzyme involved in the detoxication of ammonia; it catalyzes the second step of the urea cycle, and is X-linked in human beings. Deficiency of OTC results in ammonia intoxication and, often, in early infant death, especially in males. This report describes the use of a nearly full-length cloned human cDNA for OTC for Southern blot analysis of genomic DNA. The pattern of MspI, TaqI, HindIII and EcoRI restriction endonuclease sites from 28 control individuals of Chinese backgrounds is reported. A Southern blot by Msp I reveals invariant bands of 19.5, 5.2 and 1.9 kb respectively, as well as one set of polymorphic bands 6.6/6.2 kb. By TaqI, invariant bands are 4.8, 2.7, 1.9, 1.7 and 1.4 kb respectively, while polymorphic bands are found at 4.1/3.9 kb. By HindIII, 3.2 kb is invariant but 4.0/2.9 kb polymorphic. By EcoR I, invariant bands are 9.0, 3.6, 3.4 and 1.45 kb respectively, but 2.5 kb is polymorphic. Combined with study of the alteration of restriction sites in the informative pedigrees, this information is expected to allow accurate heterozygote detection and prenatal diagnosis of OTC deficiency.
