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Regional assignment of six polymorphic DNA sequences on chromosome 21 by in situ hybridization to normal and rearranged chromosomes.

作者信息

Münke M, Foellmer B, Watkins P C, Cowan J M, Carroll A J, Gusella J F, Francke U

机构信息

Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510.

出版信息

Am J Hum Genet. 1988 Apr;42(4):542-9.

PMID:3348217
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1715241/
Abstract

We have assigned six polymorphic DNA segments to chromosomal subregions and have established the physical order of these sequences on the long arm of chromosome 21 by in situ hybridization of cloned probes to normal metaphase chromosomes and chromosomes 21 from individuals with three different structural rearrangements: an interstitial deletion, a ring chromosome, and a reciprocal translocation involving four different breakpoints in band 21q22. Segments D21S1 and D21S11 map to region 21q11.2----q21, D21S8 to 21q21.1----q22.11, and D21S54 to 21q21.3----q22.11; D21S23 and D21S25 are both in the terminal subband 21q22.3, but they are separated by a chromosomal breakpoint in a ring 21 chromosome, a finding that places D21S23 proximal to D21S25. The physical map order D21S1/D21S11-D21S8-D21S54-D21S23-D21S25 agrees with the linkage map, but genetic distances are disproportionately larger toward the distal end of 21q.

摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c04/1715241/4e30f7235fce/ajhg00127-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c04/1715241/e0bf8a45fefa/ajhg00127-0019-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c04/1715241/4e30f7235fce/ajhg00127-0023-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c04/1715241/e0bf8a45fefa/ajhg00127-0019-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7c04/1715241/4e30f7235fce/ajhg00127-0023-a.jpg

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Rapid detection of human chromosome 21 aberrations by in situ hybridization.通过原位杂交快速检测人类21号染色体畸变
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本文引用的文献

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Localization of single copy DNA sequences of G-banded human chromosomes by in situ hybridization.通过原位杂交对G带人类染色体单拷贝DNA序列进行定位
Chromosoma. 1981;83(3):431-9. doi: 10.1007/BF00327364.
2
Neurofibrillary tangles, granulovacuolar degeneration, and neuron loss in Down Syndrome: quantitative comparison with Alzheimer dementia.唐氏综合征中的神经原纤维缠结、颗粒空泡变性及神经元丢失：与阿尔茨海默病痴呆的定量比较
Ann Neurol. 1980 May;7(5):462-5. doi: 10.1002/ana.410070512.
3
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.
Am J Hum Genet. 1988 Apr;42(4):550-9.
4
Distribution of meiotic recombination along nondisjunction chromosomes 21 in Down syndrome determined using cytogenetics and RFLP haplotyping.利用细胞遗传学和限制性片段长度多态性单倍型分析确定唐氏综合征中21号染色体不分离时减数分裂重组的分布情况。
Hum Genet. 1989 Oct;83(3):280-6. doi: 10.1007/BF00285173.
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.
4
Alzheimer's presenile dementia, senile dementia of Alzheimer type and Down's syndrome in middle age form an age related continuum of pathological changes.早老性痴呆、阿尔茨海默型老年性痴呆和中年唐氏综合征构成了一个与年龄相关的病理变化连续体。
Neuropathol Appl Neurobiol. 1984 May-Jun;10(3):185-207. doi: 10.1111/j.1365-2990.1984.tb00351.x.
5
Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome.使用21号染色体克隆DNA探针分析唐氏综合征中的不分离现象。
Hum Genet. 1984;66(1):54-6. doi: 10.1007/BF00275186.
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Somat Cell Mol Genet. 1984 Nov;10(6):589-99. doi: 10.1007/BF01535224.
7
Neuronal origin of a cerebral amyloid: neurofibrillary tangles of Alzheimer's disease contain the same protein as the amyloid of plaque cores and blood vessels.大脑淀粉样蛋白的神经元起源：阿尔茨海默病的神经原纤维缠结与斑块核心及血管淀粉样蛋白含有相同蛋白质。
EMBO J. 1985 Nov;4(11):2757-63. doi: 10.1002/j.1460-2075.1985.tb04000.x.
8
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