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利用体细胞杂种和单体性脑膜瘤细胞将人转钴胺素II(TC2)定位到22号染色体上。

Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells.

作者信息

Arwert F, Porck H J, Fràter-Schröder M, Brahe C, Geurts van Kessel A, Westerveld A, Meera Khan P, Zang K, Frants R R, Kortbeek H T

出版信息

Hum Genet. 1986 Dec;74(4):378-81. doi: 10.1007/BF00280489.

DOI:10.1007/BF00280489
PMID:3466852
Abstract

Human transcobalamin II (TC2), a vitamin B12 binding serum protein, is synthesized and secreted into the medium by cells growing in vitro. Mouse-man somatic cell hybrids were analyzed in order to map the locus of TC2. The presence of human TC2 in the culture media was correlated with the results of genetic marker and chromosome analysis of the hybrid cells. Chromosome 22 showed 100% concordancy. However, chromosome 6 (90% concordancy) and chromosome 7 (96% concordancy) were not completely excluded. Meningioma cells obtained from patients heterozygous for TC2 showed a concomitant loss of one chromosome 22 and one of the TC2 alleles, strongly supporting the assignment to chromosome 22.

摘要

人转钴胺素II(TC2)是一种维生素B12结合血清蛋白,由体外生长的细胞合成并分泌到培养基中。为了定位TC2的基因座,对小鼠-人体细胞杂种进行了分析。培养基中人类TC2的存在与杂种细胞的遗传标记和染色体分析结果相关。22号染色体显示出100%的一致性。然而,6号染色体(一致性为90%)和7号染色体(一致性为96%)并未被完全排除。从TC2杂合的患者获得的脑膜瘤细胞显示出一条22号染色体和一个TC2等位基因的同时缺失,有力地支持了将其定位于22号染色体。

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1
Assignment of human transcobalamin II (TC2) to chromosome 22 using somatic cell hybrids and monosomic meningioma cells.利用体细胞杂种和单体性脑膜瘤细胞将人转钴胺素II(TC2)定位到22号染色体上。
Hum Genet. 1986 Dec;74(4):378-81. doi: 10.1007/BF00280489.
2
Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16.
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Localization of the gene for the vitamin B12 binding protein, transcobalamin II, near the centromere on mouse chromosome 11, linked with the hemoglobin alpha-chain locus.维生素B12结合蛋白转钴胺素II基因在小鼠11号染色体着丝粒附近的定位,与血红蛋白α链基因座连锁。
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5
Expression of transcobalamin II by amniocytes.
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Variant-specific differences in human unsaturated transcobalamin II.人不饱和转钴胺素II的变异特异性差异。
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[Inherited transcobalamin-II-deficiency: clinical, genetic studies and diagnosis using cultured fibroblasts].
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引用本文的文献

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Transcobalamin deficiency - a rare genetic defect in transportation of cobalamin; case report.转钴胺素缺陷症——钴胺素转运的罕见遗传性缺陷;病例报告。
Ann Hematol. 2024 Aug;103(8):3243-3246. doi: 10.1007/s00277-024-05878-7. Epub 2024 Jul 8.
2
Case report: Novel compound-heterozygous mutations in the gene identified in a chinese girl with transcobalamin deficiency.病例报告:在中国一名患有转钴胺素缺乏症的女孩中鉴定出该基因的新型复合杂合突变。
Front Genet. 2022 Aug 12;13:951007. doi: 10.3389/fgene.2022.951007. eCollection 2022.
3
Identification of transcobalamin deficiency with two novel mutations in the TCN2 gene in a Chinese girl with abnormal immunity: a case report.

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Localization of the gene for the vitamin B12 binding protein, transcobalamin II, near the centromere on mouse chromosome 11, linked with the hemoglobin alpha-chain locus.维生素B12结合蛋白转钴胺素II基因在小鼠11号染色体着丝粒附近的定位,与血红蛋白α链基因座连锁。
Biochem Genet. 1985 Feb;23(1-2):139-53. doi: 10.1007/BF00499119.
10
Production of mammalian somatic cell hybrids by means of polyethylene glycol treatment.通过聚乙二醇处理制备哺乳动物体细胞杂种。
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