• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

通过高分辨率双变量流式核型分析对染色体异态性的遗传分析。

Inheritance of chromosome heteromorphisms analyzed by high-resolution bivariate flow karyotyping.

作者信息

Trask B, van den Engh G, Gray J W

机构信息

Lawrence Livermore National Laboratory, Biomedical Sciences Division, Livermore, CA 94550.

出版信息

Am J Hum Genet. 1989 Nov;45(5):753-60.

PMID:2816941
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1683447/
Abstract

The DNA content of the mitotic chromosomes from 10 children and their parents in four families were quantified by bivariate flow karyotyping. In all cases, each chromosome peak in the flow karyotype of the child could be traced to one of the two parents. The measured absolute difference in homologue DNA content between children and their parents averaged 0.8%, or approximately 1 Mbp over all chromosome types. This study demonstrates that flow karyotypes of a proband's parents can be an aid in detecting and quantifying the size of de novo deletions that involve heteromorphic chromosome types.

摘要

通过双变量流式核型分析对四个家庭中10名儿童及其父母的有丝分裂染色体的DNA含量进行了定量分析。在所有情况下,儿童流式核型中的每个染色体峰都可以追溯到父母双方中的一方。在所有染色体类型中,儿童与其父母之间同源DNA含量的测量绝对差异平均为0.8%,约为1 Mbp。这项研究表明,先证者父母的流式核型有助于检测和定量涉及异型染色体类型的新生缺失的大小。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5b7/1683447/8a09d9060fa2/ajhg00108-0094-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5b7/1683447/8a09d9060fa2/ajhg00108-0094-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f5b7/1683447/8a09d9060fa2/ajhg00108-0094-a.jpg

相似文献

1
Inheritance of chromosome heteromorphisms analyzed by high-resolution bivariate flow karyotyping.通过高分辨率双变量流式核型分析对染色体异态性的遗传分析。
Am J Hum Genet. 1989 Nov;45(5):753-60.
2
Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping.通过高分辨率双变量流式核型分析对染色体异态性进行定量分析。
Am J Hum Genet. 1989 Nov;45(5):739-52.
3
Quantification of the DNA content of structurally abnormal X chromosomes and X chromosome aneuploidy using high resolution bivariate flow karyotyping.利用高分辨率双变量流式核型分析对结构异常X染色体和X染色体非整倍体的DNA含量进行定量分析。
Cytometry. 1990;11(1):184-95. doi: 10.1002/cyto.990110121.
4
The potential of family flow karyotyping for the detection of chromosome abnormalities.家庭流动核型分析在检测染色体异常方面的潜力。
Hum Genet. 1987 Jun;76(2):129-33. doi: 10.1007/BF00284908.
5
Standardization of bivariate flow karyotypes of human chromosomes for clinical applications.用于临床应用的人类染色体双变量流式核型标准化。
J Clin Lab Anal. 1997;11(3):169-74. doi: 10.1002/(SICI)1098-2825(1997)11:3<169::AID-JCLA9>3.0.CO;2-5.
6
Analysis of the variation in chromosome size among diverse human populations by bivariate flow karyotyping.通过双变量流式核型分析不同人类群体间染色体大小的差异。
Hum Genet. 1997 Jul;100(1):138-44. doi: 10.1007/s004390050479.
7
Swine chromosomal DNA quantification by bivariate flow karyotyping and karyotype interpretation.通过双变量流式核型分析和核型解释对猪染色体DNA进行定量分析。
Cytometry. 1992;13(7):703-10. doi: 10.1002/cyto.990130706.
8
High-resolution analysis of human peripheral lymphocyte chromosomes by flow cytometry.通过流式细胞术对人类外周淋巴细胞染色体进行高分辨率分析。
Proc Natl Acad Sci U S A. 1981 Dec;78(12):7727-31. doi: 10.1073/pnas.78.12.7727.
9
Bivariate flow karyotyping of human chromosomes: evaluation of variation in Hoechst 33258 fluorescence, chromomycin A3 fluorescence, and relative chromosomal DNA content.人类染色体的双变量流式核型分析:对Hoechst 33258荧光、放线菌素A3荧光及相对染色体DNA含量变异的评估
Cytometry. 1991;12(6):559-69. doi: 10.1002/cyto.990120613.
10
Quantitative karyotyping of human chromosomes by dual beam flow cytometry.通过双光束流式细胞术对人类染色体进行定量核型分析。
Proc Natl Acad Sci U S A. 1982 Dec;79(24):7876-80. doi: 10.1073/pnas.79.24.7876.

引用本文的文献

1
De novo formed satellite DNA-based mammalian artificial chromosomes and their possible applications.基于新生卫星DNA的哺乳动物人工染色体及其可能的应用。
Chromosome Res. 2015 Feb;23(1):143-57. doi: 10.1007/s10577-014-9458-0.
2
Definition of the zebrafish genome using flow cytometry and cytogenetic mapping.利用流式细胞术和细胞遗传学图谱对斑马鱼基因组进行定义。
BMC Genomics. 2007 Jun 27;8:195. doi: 10.1186/1471-2164-8-195.
3
Standardization of bivariate flow karyotypes of human chromosomes for clinical applications.用于临床应用的人类染色体双变量流式核型标准化。

本文引用的文献

1
Karyotyping and identification of human chromosome polymorphisms by single fluorochrome flow cytometry.通过单荧光染料流式细胞术进行人类染色体多态性的核型分析与鉴定
Hum Genet. 1984;66(2-3):143-6. doi: 10.1007/BF00286588.
2
Heterochromatin, the synaptonemal complex and crossing over.异染色质、联会复合体与交叉互换
J Cell Sci. 1984 Oct;71:159-76. doi: 10.1242/jcs.71.1.159.
3
The DNA-based human karyotype.基于DNA的人类核型。
J Clin Lab Anal. 1997;11(3):169-74. doi: 10.1002/(SICI)1098-2825(1997)11:3<169::AID-JCLA9>3.0.CO;2-5.
4
Chromosome-specific paints from a high-resolution flow karyotype of the dog.来自犬高分辨率流式核型分析的染色体特异性涂染剂。
Chromosome Res. 1996 Feb;4(2):115-23. doi: 10.1007/BF02259704.
5
Chromosome heteromorphism quantified by high-resolution bivariate flow karyotyping.通过高分辨率双变量流式核型分析对染色体异态性进行定量分析。
Am J Hum Genet. 1989 Nov;45(5):739-52.
6
Molecular characterization of a patient with del(1)(q23-q25).一名患有1号染色体长臂2区3带至2区5带缺失(del(1)(q23-q25))患者的分子特征分析
Hum Genet. 1991 Jul;87(3):269-77. doi: 10.1007/BF00200903.
7
Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints.Xp21连续基因综合征:采用双变量流式核型分析进行缺失定量可对患者断点进行定位。
Am J Hum Genet. 1992 Dec;51(6):1277-85.
Cytometry. 1984 Jul;5(4):376-85. doi: 10.1002/cyto.990050414.
4
Preparation of chromosome suspensions for flow cytometry.用于流式细胞术的染色体悬液制备
Cytometry. 1984 Mar;5(2):108-17. doi: 10.1002/cyto.990050203.
5
Y family study: heritable variation in the length of the human Y chromosome.Y染色体家族研究:人类Y染色体长度的遗传变异
Am J Hum Genet. 1972 Nov;24(6 Pt 1):686-93.
6
Fluorescent chromosome polymorphisms: frequencies and segregations in a Dutch population.荧光染色体多态性:荷兰人群中的频率与分离情况
Clin Genet. 1974;6(4):247-57. doi: 10.1111/j.1399-0004.1974.tb02086.x.
7
The nature and inheritance of an elongated secondary constriction on chromosome 9 of man.人类9号染色体上一个伸长的次缢痕的性质与遗传
Cytogenet Cell Genet. 1973;12(6):404-13. doi: 10.1159/000130483.
8
Human chromosome variation: the discriminatory power of Q-band heteromorphism (variant) analysis in distinguishing between individuals, with specific application to cases of questionable paternity.人类染色体变异:Q带异态性(变异)分析在个体识别中的鉴别力,特别应用于亲权存疑的案例。
Am J Hum Genet. 1986 Feb;38(2):235-52.
9
Determination of the DNA content of human chromosomes by flow cytometry.通过流式细胞术测定人类染色体的DNA含量。
Cytogenet Cell Genet. 1986;41(1):14-21. doi: 10.1159/000132190.
10
Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry.通过DNA分析和流式细胞术可检测到的因家族性Xp21缺失导致的杜氏肌营养不良症。
Hum Genet. 1986 Jun;73(2):175-80. doi: 10.1007/BF00291610.