Biomaterial Database

Restriction fragment length polymorphisms at the ornithine transcarbamylase locus in normal Chinese. 1990

T R Wang, and J W Hou, and H M Tsai

Department of Pediatrics, National Taiwan University Hospital, Taipei, R.O.C.

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.

UI	MeSH Term	Description	Entries
D008928	Mitochondria	Semiautonomous, self-reproducing organelles that occur in the cytoplasm of all cells of most, but not all, eukaryotes. Each mitochondrion is surrounded by a double limiting membrane. The inner membrane is highly invaginated, and its projections are called cristae. Mitochondria are the sites of the reactions of oxidative phosphorylation, which result in the formation of ATP. They contain distinctive RIBOSOMES, transfer RNAs (RNA, TRANSFER); AMINO ACYL T RNA SYNTHETASES; and elongation and termination factors. Mitochondria depend upon genes within the nucleus of the cells in which they reside for many essential messenger RNAs (RNA, MESSENGER). Mitochondria are believed to have arisen from aerobic bacteria that established a symbiotic relationship with primitive protoeukaryotes. (King & Stansfield, A Dictionary of Genetics, 4th ed)	Mitochondrial Contraction,Mitochondrion,Contraction, Mitochondrial,Contractions, Mitochondrial,Mitochondrial Contractions
D009954	Ornithine Carbamoyltransferase	A urea cycle enzyme that catalyzes the formation of orthophosphate and L-citrulline (CITRULLINE) from CARBAMOYL PHOSPHATE and L-ornithine (ORNITHINE). Deficiency of this enzyme may be transmitted as an X-linked trait. EC 2.1.3.3.	Ornithine Transcarbamylase,Ornithine Carbamylphosphate Transferase,Carbamoyltransferase, Ornithine,Carbamylphosphate Transferase, Ornithine,Transcarbamylase, Ornithine,Transferase, Ornithine Carbamylphosphate
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013624	Taiwan	Country in eastern Asia, islands bordering the East China Sea, Philippine Sea, South China Sea, and Taiwan Strait, north of the Philippines, off the southeastern coast of China. The capital is Taipei. The alternate country name is Republic of China.	Formosa,Republic of China
D015342	DNA Probes	Species- or subspecies-specific DNA (including COMPLEMENTARY DNA; conserved genes, whole chromosomes, or whole genomes) used in hybridization studies in order to identify microorganisms, to measure DNA-DNA homologies, to group subspecies, etc. The DNA probe hybridizes with a specific mRNA, if present. Conventional techniques used for testing for the hybridization product include dot blot assays, Southern blot assays, and DNA:RNA hybrid-specific antibody tests. Conventional labels for the DNA probe include the radioisotope labels 32P and 125I and the chemical label biotin. The use of DNA probes provides a specific, sensitive, rapid, and inexpensive replacement for cell culture techniques for diagnosing infections.	Chromosomal Probes,DNA Hybridization Probe,DNA Probe,Gene Probes, DNA,Conserved Gene Probes,DNA Hybridization Probes,Whole Chromosomal Probes,Whole Genomic DNA Probes,Chromosomal Probes, Whole,DNA Gene Probes,Gene Probes, Conserved,Hybridization Probe, DNA,Hybridization Probes, DNA,Probe, DNA,Probe, DNA Hybridization,Probes, Chromosomal,Probes, Conserved Gene,Probes, DNA,Probes, DNA Gene,Probes, DNA Hybridization,Probes, Whole Chromosomal
D044466	Asian People	Persons having origins in any of the Asian racial groups of the Far East, Southeast Asia, or the Indian subcontinent including, for example, Cambodia, China, India, Japan, Korea, Malaysia, Pakistan, the Philippine Islands, Thailand, and Vietnam. Note that OMB category ASIAN is available for United States population groups. Race and ethnicity terms, as used in the federal government, are self-identified social construct and may include terms outdated and offensive in MeSH to assist users who are interested in retrieving comprehensive search results for studies such as in longitudinal studies.	Asian Continental Ancestry Group,Asian Person,Asiatic Race,Mongoloid Race,Asian Peoples,Asian Persons,Asiatic Races,Mongoloid Races,People, Asian,Person, Asian,Race, Asiatic,Race, Mongoloid