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一种检测人皮肤中组氨酸酶及组氨酸血症杂合子的新的灵敏方法。

A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia.

作者信息

Kuroda Y, Ito M, Ogawa T, Takeda E, Toshima K, Miyao M

出版信息

Clin Chim Acta. 1979 Aug 15;96(1-2):139-44. doi: 10.1016/0009-8981(79)90063-9.

DOI:10.1016/0009-8981(79)90063-9
PMID:476954
Abstract

A new sensitive method was developed for assay of histidase in the stratum corneum of human skin with [14C] histidine as substrate. With this method histidase could be detected using less than 1 mg of stratum corneum. Skin histidase was markedly reduced in seven infants with histidinemia. The enzyme activities in thirteen parents of the patients were about 50% of the normal values, and even the highest values in the parents did not overlap the lowest normal values. Thus heterozygotes in the autosomal recessive form of histidinemia can be distinguished from normal persons by their skin histidase activity measured by this sensitive assay method.

摘要

以[14C]组氨酸为底物,开发了一种用于检测人皮肤角质层中组氨酸酶的新的灵敏方法。使用这种方法,用少于1毫克的角质层就能检测到组氨酸酶。7例组氨酸血症婴儿的皮肤组氨酸酶明显降低。13例患者父母的酶活性约为正常值的50%,甚至父母中的最高值也未与最低正常值重叠。因此,通过这种灵敏的检测方法测量皮肤组氨酸酶活性,可以将常染色体隐性形式组氨酸血症的杂合子与正常人区分开来。

相似文献

1
A new sensitive method for assay of histidase in human skin and detection of heterozygotes for histidinemia.一种检测人皮肤中组氨酸酶及组氨酸血症杂合子的新的灵敏方法。
Clin Chim Acta. 1979 Aug 15;96(1-2):139-44. doi: 10.1016/0009-8981(79)90063-9.
2
Relationship between skin histidase activity and blood histidine response to histidine intake in patients with histidinemia.组氨酸血症患者皮肤组氨酸酶活性与摄入组氨酸后血液中组氨酸反应的关系。
J Pediatr. 1980 Aug;97(2):269-72. doi: 10.1016/s0022-3476(80)80493-8.
3
[A simple thin-layer chromatographic assay of urocanic acid in the stratum corneum for evaluation of skin histidase activity (author's transl)].[用于评估皮肤组胺酶活性的角质层中尿刊酸的简易薄层色谱测定法(作者译)]
Padiatr Padol. 1976;11(1):313-8.
4
Metabolism of histidine in children with speech abnormalities. 1. Histidase activity in stratum corneum.言语异常儿童组氨酸的代谢。1. 角质层中的组氨酸酶活性。
Acta Med Pol. 1985;26(1-2):27-36.
5
Histidase and histidinemia. Clinical and molecular considerations.组氨酸酶与组氨酸血症。临床及分子学考量。
Mol Biol Med. 1991 Feb;8(1):101-16.
6
Skin histidase activity and urine formiminoglutamic acid (FIGLU) in patients with histidinemia found by screening newborn infants.通过筛查新生儿发现的组氨酸血症患者的皮肤组氨酸酶活性和尿亚胺甲基谷氨酸(FIGLU)。
Clin Chim Acta. 1982 Mar 12;119(3):319-28. doi: 10.1016/0009-8981(82)90345-x.
7
Histidinemia. Classical and atypical form in siblings.组氨酸血症。同胞中的典型和非典型形式。
Am J Dis Child. 1975 Jul;129(7):858-61. doi: 10.1001/archpedi.1975.02120440074017.
8
[Thin layer chromatographic test for the indirect and direct detection of the enzyme defect in histidinemia].[用于间接和直接检测组氨酸血症中酶缺陷的薄层色谱试验]
Monatsschr Kinderheilkd. 1983 Feb;131(2):90-2.
9
Altered kinetic properties of skin histidase in two patients with histidinaemia.两名组氨酸血症患者皮肤组氨酸酶的动力学特性改变。
J Inherit Metab Dis. 1982;5(2):73-4. doi: 10.1007/BF01799993.
10
Genetic heterogeneity of histidinemia detected by screening newborn infants in Japan.在日本通过筛查新生儿检测到的组氨酸血症的遗传异质性。
Jinrui Idengaku Zasshi. 1985 Dec;30(4):287-95. doi: 10.1007/BF01907966.

引用本文的文献

1
Early-life regional and temporal variation in filaggrin-derived natural moisturizing factor, filaggrin-processing enzyme activity, corneocyte phenotypes and plasmin activity: implications for atopic dermatitis.早期生活中丝聚合蛋白衍生天然保湿因子、丝聚合蛋白水解酶活性、角质形成细胞表型和纤溶酶活性的区域性和时间性变化:对特应性皮炎的影响。
Br J Dermatol. 2018 Aug;179(2):431-441. doi: 10.1111/bjd.16691. Epub 2018 Jun 29.
2
Measurement of the skin urocanic acid content in normal and histidinemic infants.正常婴儿和组氨酸血症婴儿皮肤尿刊酸含量的测定。
Eur J Pediatr. 1983 Sep;140(4):330-2. doi: 10.1007/BF00442675.