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21号染色体亚显微重复与21三体综合征表型（唐氏综合征）。

Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).

作者信息

Delabar J M, Sinet P M, Chadefaux B, Nicole A, Gegonne A, Stehelin D, Fridlansky F, Créau-Goldberg N, Turleau C, de Grouchy J

出版信息

Hum Genet. 1987 Jul;76(3):225-9. doi: 10.1007/BF00283612.

DOI:10.1007/BF00283612
PMID:3036686
Abstract

A patient with the phenotype of trisomy 21 (Down syndrome) was found to have a normal karyotype in blood lymphocytes and fibroblasts. Assessment of the chromosome 21 markers SOD1, CBS, ETS2, D21S11, and BCEI showed partial trisomy by duplication of a chromosome segment carrying the SOD1, CBS, and ETS2 loci and flanked by the BCEI and D21S11 loci, which are not duplicated. This submicroscopic duplication at the interface of 21q21 and 21q22.1 reduces to about 2000-3000 kb the critical segment the trisomy of which is responsible for the phenotype of trisomy 21.

摘要

一名具有21三体综合征（唐氏综合征）表型的患者，其血液淋巴细胞和成纤维细胞的核型正常。对21号染色体标记物超氧化物歧化酶1（SOD1）、胱硫醚β-合成酶（CBS）、ETS2转录因子（ETS2）、D21S11和BCEI的评估显示，通过携带SOD1、CBS和ETS2基因座的染色体片段重复出现部分三体性，该片段两侧为未重复的BCEI和D21S11基因座。21q21和21q22.1交界处的这种亚显微重复将关键片段缩小至约2000 - 3000 kb，该关键片段的三体性导致了21三体综合征的表型。

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本文引用的文献

1
Trisomy 21 for the region 21q223: identification by high-resolution R-banding patterns.21号染色体长臂22.3区三体：通过高分辨率R带模式进行鉴定。
Hum Genet. 1981;56(3):409-11. doi: 10.1007/BF00274703.
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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。
Anal Biochem. 1983 Jul 1;132(1):6-13. doi: 10.1016/0003-2697(83)90418-9.
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Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.克隆人I型胶原α2前体链的cDNA。
21号染色体长臂22区4.3兆碱基的家族性重复为唐氏综合征关键区域带来了新的认识。
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Comparison of the 5' end of the rat and mouse cystathionine beta-synthase genes.大鼠和小鼠胱硫醚β-合酶基因5'端的比较。
Mamm Genome. 1996 Oct;7(10):754-7. doi: 10.1007/s003359900226.
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Genomic damage and its repair in young and aging brain.年轻及衰老大脑中的基因组损伤及其修复
Mol Neurobiol. 1993 Spring;7(1):23-48. doi: 10.1007/BF02780607.
6
Trisomy 21q223 and Down's phenotype correlation evidenced by in situ hybridization.21号染色体q223三体与唐氏表型的相关性通过原位杂交得以证实。
Hum Genet. 1988 Nov;80(3):277-81. doi: 10.1007/BF01790097.
7
Human ETS2 gene on chromosome 21 is not rearranged in Alzheimer disease.位于21号染色体上的人类ETS2基因在阿尔茨海默病中未发生重排。
Proc Natl Acad Sci U S A. 1988 Oct;85(20):7675-9. doi: 10.1073/pnas.85.20.7675.
8
Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome.21号染色体上D21S55区域在唐氏综合征发病机制中的关键作用。
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9
Slot blot method for the quantification of DNA sequences and mapping of chromosome rearrangements: application to chromosome 21.用于DNA序列定量和染色体重排定位的狭缝杂交法：应用于21号染色体
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10
Increased SOD1 enzymatic activity and gene modifications in orangutans: evolutionary implications.
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4
Leukemia and other cancers, anomalies and infections as causes of death in Down's syndrome in the United States during 1976.
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Human cytoplasmic superoxide dismutase cDNA clone: a probe for studying the molecular biology of Down syndrome.人细胞质超氧化物歧化酶cDNA克隆：用于研究唐氏综合征分子生物学的探针。
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6
Moderate Down's syndrome in three siblings having partial trisomy 21q22.2 to qter and therefore no SOD-1 excess.三名患有21q22.2至qter部分三体性且因此不存在超量超氧化物歧化酶-1的同胞患有中度唐氏综合征。
Hum Genet. 1982;60(1):74-7. doi: 10.1007/BF00281269.
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Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1(I) collagen chain.人Ⅰ型前α1胶原链特异性的五个重叠cDNA的克隆与特性分析
Nucleic Acids Res. 1982 Oct 11;10(19):5925-34. doi: 10.1093/nar/10.19.5925.
8
Down Syndrome and acute leukaemia: increased risk may be due to trisomy 21.唐氏综合征与急性白血病：风险增加可能归因于21三体。
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Cystathionine synthase deficiency: heterozygote detection using cultured skin fibroblasts.胱硫醚合成酶缺乏症：利用培养的皮肤成纤维细胞进行杂合子检测。
Biochem Biophys Res Commun. 1973 Nov 1;55(1):38-44. doi: 10.1016/s0006-291x(73)80056-7.