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单纯三体性及21/22易位型唐氏综合征患者的靛酚氧化酶

Indophenol-oxidase in patients with Down's syndrome due to simple trisomy and to translocation 21/22.

作者信息

Kedziora J, Rozynkowa D, Kopff M, Jeske J

出版信息

Hum Genet. 1976 Sep 10;34(1):9-12. doi: 10.1007/BF00284427.

DOI:10.1007/BF00284427
PMID:184031
Abstract

The indophenol-oxidase of erythrocytes was studied in three groups (trisomy G 21, unbalanced translocation 21/22, and control group). The increase of IPO activity in patients with trisomy G 21 was observed, whereas in those with unbalanced translocation 21/22 the levels of IPO were slightly lower than in control group.

摘要

对三组人群（21号染色体三体、21/22号染色体不平衡易位以及对照组）的红细胞吲哚酚氧化酶进行了研究。观察到21号染色体三体患者的吲哚酚氧化酶（IPO）活性增加，而21/22号染色体不平衡易位患者的IPO水平略低于对照组。

相似文献

1
Indophenol-oxidase in patients with Down's syndrome due to simple trisomy and to translocation 21/22.单纯三体性及21/22易位型唐氏综合征患者的靛酚氧化酶
Hum Genet. 1976 Sep 10;34(1):9-12. doi: 10.1007/BF00284427.
2
Dismutase activity in translocation trisomy.易位三体中的歧化酶活性。
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Inherited t2q-/15q+ translocation and Down's syndrome.
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De novo translocation Down's syndrome: risk of recurrence of Down's syndrome.
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5
Translocation and trisomic Down's syndrome in a family with a familial D-G translocation.
Cytologia (Tokyo). 1969 Sep;34(3):423-8. doi: 10.1508/cytologia.34.423.
6
[Significance of the type of chromosome aberrations and biochemical disorders for diagnosis of Down's syndrome and the phenotype of partial trisomy 21].[染色体畸变类型和生化紊乱对唐氏综合征诊断及部分21三体综合征表型的意义]
Pediatr Pol. 1980 Jan;55(1):23-32.
7
Down's syndrome. I. Cytogenetics.唐氏综合征。一、细胞遗传学。
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8
Blood cell enzymes in translocation Down's syndrome.易位型唐氏综合征中的血细胞酶
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Familial balanced (7;11;21) translocation and Down's syndrome in two siblings.
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Familial translocation t(3p-;21q+) associated with both Down's and Sturge-Weber's syndrome in unbalanced state.家族性易位t(3p-;21q+)，处于不平衡状态，与唐氏综合征和斯特奇-韦伯综合征均相关。
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引用本文的文献

1
Lack of position effect on the activity of SODCu/Zn gene in subjects with 21/D and 21/G Robertsonian translocations.21/D和21/G罗伯逊易位患者中SODCu/Zn基因活性缺乏位置效应。
Hum Genet. 1981;57(2):203-4. doi: 10.1007/BF00282023.
2
Red blood cell glutathione peroxidase in simple trisomy 21 and translocation 21/22.
Experientia. 1982 May 15;38(5):543-4. doi: 10.1007/BF02327040.
3
A case of 21q--syndrome with normal SOD-1 activity.一例SOD-1活性正常的21号染色体长臂部分缺失综合征病例。

本文引用的文献

1
ERYTHROCYTE GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN CAUCASIANS: NEW INHERITED VARIANT.高加索人中的红细胞葡萄糖-6-磷酸脱氢酶：新的遗传变异体。
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Chromosome preparations of leukocytes cultured from human peripheral blood.从人外周血培养的白细胞的染色体标本制备。
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[Study of somatic chromosomes from 9 mongoloid children].[对9名蒙古人种儿童体细胞染色体的研究]
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Efficiency of the glycolytic pathway in erythrocytes of children with Down's syndrome.唐氏综合征患儿红细胞中糖酵解途径的效率
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5
[Overactivity of the indophenol oxidase (form dimeric) in the trisomy 21, secondary to triplicated gene (author's transl)].21三体综合征中因基因三倍体导致的（作者译）二聚体型吲哚酚氧化酶活性过高
Humangenetik. 1974 Jun 26;23(1):65-72. doi: 10.1007/BF00295684.
6
The linkage of genes for the human interferon-induced antiviral protein and indophenol oxidase-B traits to chromosome G-21.人类干扰素诱导的抗病毒蛋白基因与吲哚酚氧化酶-B性状与G-21染色体的连锁。
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Achromatic regions of tetrazolium stained starch gels: inherited electrophoretic variation.
Am J Hum Genet. 1967 Sep;19(5):674-80.
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[Low blood iron content in children with Down's syndrome].
Endokrynol Pol. 1974 Jan-Feb;25(1):9-13.
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Down's syndrome. The possibility of a pathogenetic segment on chromosome no. 21.唐氏综合征。21号染色体上致病片段的可能性。
Humangenetik. 1974 Jan 22;21(1):99-101. doi: 10.1007/BF00278575.
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[Down's syndrome: normalization of serum amino acid and protein levels in non-balanced G-G translocation].
Endokrynol Pol. 1973;24(2):139-47.