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題名 | Restriction Fragment Length Polymorphisms at the Ornithine Transcarbamylase Locus in Normal Chinese=正常中國人鳥胺酸甲醯轉移酶基座之限制片段長度多態研究 |
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作者姓名(中文) | 王作仁; 侯家瑋; 蔡惠滿; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷期 | 31:4 民79.07-08 |
頁次 | 頁221-225 |
分類號 | 415.121 |
關鍵詞 | 中國人; 鳥胺酸甲醯轉移酶基座; 限制片段長度; |
語文 | 英文(English) |
中文摘要 | 鳥胺酸甲醯轉移酶(ornithine trans-carbamylase, OTC)是一種存於肝臟細胞之粒腺體酶(mitochondrial enzyme),主要作用在於脲循環(urea cycle)中氨(ammonia)之解毒作用。它在人類是屬於性聯鎖遺傳(X-linked)。在先天性鳥胺酸甲醯轉移酶缺陷(OTC deficiency)之病例將引起再發性氨中毒現象,常造成嬰兒(尤其是男嬰)早期死亡。吾等利用OTC之幾近全長度純系人類互補去氧核糖核酸(nearly full-length cloned DNA for OTC)作Southern氏點漬(Southern blot)以分析此酶之基因組型。由28名正常、無血親關係之中國人,利用核酸內切酶(endonucleases)包括MspⅠ,TaqⅠ,HindⅢ及EcoRI來觀察其切出限制部位(restriction sites)之不同。使用MspⅠ,在19.5,5.2及1.9kb處為不變帶(invariant bands),而在6.6/6.2kb處有一組多形帶(polymorphic bands);使用TaqⅠ,不變帶位於4.8,2.7,1.9,1.7及1.4kb處,而多形帶位於4.1/3.9kb處,使用HindⅢ則只見一處不變帶(3.2kb)及一組多形帶(4.0/2.9kb);使用EcoRI,不變帶是9.0,3.6,3.4及1.45kb處而多形帶位於2.5kb處。如果利用多種限制酶切出限制部位的型式來分析有關OTC缺陷之家族,將可提高雜合子(heterozygote),或帶病者者(carrier)檢出率,並可使用於產前診斷。 |
英文摘要 | 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 MspⅠ reveals invariant bands of 19.5, 5.2 and 1.9kb respectively, as well as one set of polymorphic bands 6.6/6.2 kb. By TaqⅠ, invarinat 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 Hind Ⅲ, 3.2 kb is invariant but 4.0/2.9 kb polymorphic. By EcoRⅠ, 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 deficieny |
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