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人类单胺氧化酶A和B基因定位于Xp 11.23,且在一名患有诺里病的患者中发生了缺失。

Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease.

作者信息

Lan N C, Heinzmann C, Gal A, Klisak I, Orth U, Lai E, Grimsby J, Sparkes R S, Mohandas T, Shih J C

机构信息

Division of Biological Sciences, School of Pharmacy, University of Southern California, Los Angeles 90033.

出版信息

Genomics. 1989 May;4(4):552-9. doi: 10.1016/0888-7543(89)90279-6.

DOI:10.1016/0888-7543(89)90279-6
PMID:2744764
Abstract

Monoamine oxidase A and B (MAO A and B) are the central enzymes that catalyze oxidative deamination of biogenic amines throughout the body. The regional locations of genes encoding MAO A and B on the X chromosome were determined by using full-length cDNA clones for human MAO A and B, respectively. Using somatic cell hybrids, in situ hybridization, and field-inversion gel electrophoresis as well as deletion mapping in a patient with Norrie disease, we concluded that these two genes are close to each other and to the DXS7 locus (Xp 11.3).

摘要

单胺氧化酶A和B(MAO A和B)是催化全身生物胺氧化脱氨的关键酶。分别使用人MAO A和B的全长cDNA克隆确定了X染色体上编码MAO A和B的基因的区域位置。通过体细胞杂种、原位杂交、脉冲场凝胶电泳以及对一名诺里病患者进行缺失定位分析,我们得出结论,这两个基因彼此相邻,且与DXS7基因座(Xp 11.3)相邻。

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Human monoamine oxidase A and B genes map to Xp 11.23 and are deleted in a patient with Norrie disease.人类单胺氧化酶A和B基因定位于Xp 11.23,且在一名患有诺里病的患者中发生了缺失。
Genomics. 1989 May;4(4):552-9. doi: 10.1016/0888-7543(89)90279-6.
2
Plasma amine oxidase activities in Norrie disease patients with an X-chromosomal deletion affecting monoamine oxidase.患有影响单胺氧化酶的X染色体缺失的诺里病患者的血浆胺氧化酶活性。
J Neural Transm Gen Sect. 1991;83(1-2):1-12. doi: 10.1007/BF01244447.
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Characterization of a YAC containing part or all of the Norrie disease locus.一个包含部分或全部诺里病基因座的酵母人工染色体的特征分析。
Hum Mol Genet. 1992 Jun;1(3):161-4. doi: 10.1093/hmg/1.3.161.
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Physical fine-mapping of a deletion spanning the Norrie gene.跨越诺里基因的缺失区域的物理精细定位。
Hum Genet. 1989 Dec;84(1):22-6. doi: 10.1007/BF00210665.
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Isolation of a candidate gene for Norrie disease by positional cloning.通过定位克隆分离诺里病的一个候选基因。
Nat Genet. 1992 Jun;1(3):199-203. doi: 10.1038/ng0692-199.
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Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism.人类单胺氧化酶基因(MAOA):染色体定位(Xp21 - p11)及DNA多态性
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Localization of human monoamine oxidase-A gene to Xp11.23-11.4 by in situ hybridization: implications for Norrie disease.
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Molecular basis of human MAO A and B.人类单胺氧化酶A和B的分子基础。
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Detection of a new submicroscopic Norrie disease deletion interval with a novel DNA probe isolated by differential Alu PCR fingerprint cloning.利用差异Alu PCR指纹克隆分离的新型DNA探针检测新的亚微观诺里病缺失区间。
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Norrie disease: linkage analysis using a 4.2-kb RFLP detected by a human ornithine aminotransferase cDNA probe.
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