人类多位点遗传连锁图谱的构建。
Construction of multilocus genetic linkage maps in humans.
作者信息
Lander E S, Green P
出版信息
Proc Natl Acad Sci U S A. 1987 Apr;84(8):2363-7. doi: 10.1073/pnas.84.8.2363.
Abstract
Human genetic linkage maps are most accurately constructed by using information from many loci simultaneously. Traditional methods for such multilocus linkage analysis are computationally prohibitive in general, even with supercomputers. The problem has acquired practical importance because of the current international collaboration aimed at constructing a complete human linkage map of DNA markers through the study of three-generation pedigrees. We describe here several alternative algorithms for constructing human linkage maps given a specified gene order. One method allows maximum-likelihood multilocus linkage maps for dozens of DNA markers in such three-generation pedigrees to be constructed in minutes.
摘要
人类遗传连锁图谱最准确的构建方式是同时使用来自多个基因座的信息。一般来说，用于这种多位点连锁分析的传统方法在计算上是令人望而却步的，即使使用超级计算机也是如此。由于目前旨在通过对三代系谱的研究构建完整的人类DNA标记连锁图谱的国际合作，这个问题已具有实际重要性。我们在此描述了几种在给定特定基因顺序的情况下构建人类连锁图谱的替代算法。其中一种方法能在数分钟内构建出这种三代系谱中数十个DNA标记的最大似然多位点连锁图谱。
相似文献
1
Construction of multilocus genetic linkage maps in humans.人类多位点遗传连锁图谱的构建。
Proc Natl Acad Sci U S A. 1987 Apr;84(8):2363-7. doi: 10.1073/pnas.84.8.2363.
2
Efficient computations in multilocus linkage analysis.多位点连锁分析中的高效计算。
Am J Hum Genet. 1988 Mar;42(3):498-505.
3
Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.人类连锁图谱的构建：多位点连锁分析的似然计算
Genet Epidemiol. 1986;3(1):39-52. doi: 10.1002/gepi.1370030105.
4
Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.人类多位点连锁分析：连锁检测与重组估计
Am J Hum Genet. 1985 May;37(3):482-98.
5
Constructing large-scale genetic maps using an evolutionary strategy algorithm.使用进化策略算法构建大规模遗传图谱。
Genetics. 2003 Dec;165(4):2269-82. doi: 10.1093/genetics/165.4.2269.
6
A new strategy for estimating recombination fractions between dominant markers from an F2 population.一种估算F2群体中显性标记间重组率的新策略。
Genetics. 2007 Feb;175(2):923-31. doi: 10.1534/genetics.106.064030. Epub 2006 Oct 22.
7
Genetic linkage map of human chromosome 7 with 63 DNA markers.含63个DNA标记的人类7号染色体遗传连锁图谱。
Proc Natl Acad Sci U S A. 1987 Nov;84(22):8006-10. doi: 10.1073/pnas.84.22.8006.
8
Accounting for Errors in Low Coverage High-Throughput Sequencing Data When Constructing Genetic Maps Using Biparental Outcrossed Populations.利用双交群体构建遗传图谱时，考虑低覆盖率高通量测序数据中的错误。
Genetics. 2018 May;209(1):65-76. doi: 10.1534/genetics.117.300627. Epub 2018 Feb 27.
9
Comparison of linkage maps from F2 and three times intermated generations in two populations of European flint maize (Zea mays L.).欧洲硬质玉米（Zea mays L.）两个群体中F2代和三代回交群体的连锁图谱比较。
Theor Appl Genet. 2006 Sep;113(5):857-66. doi: 10.1007/s00122-006-0343-x. Epub 2006 Jul 11.
10
Evaluation of algorithms used to order markers on genetic maps.遗传图谱上标记顺序算法的评估。
Heredity (Edinb). 2009 Dec;103(6):494-502. doi: 10.1038/hdy.2009.96. Epub 2009 Jul 29.
引用本文的文献
1
An Upper Bound on the Power of DNA to Distinguish Pedigree Relationships.DNA区分谱系关系能力的上限
Genes (Basel). 2025 Apr 26;16(5):492. doi: 10.3390/genes16050492.
2
Comparative Study of Statistical Approaches and SNP Panels to Infer Distant Relationships in Forensic Genetics.法医遗传学中用于推断远亲关系的统计方法和单核苷酸多态性面板的比较研究
Genes (Basel). 2025 Jan 21;16(2):114. doi: 10.3390/genes16020114.
3
Complex kinship testing using the MGIEasy Pa-SNPs genotyping kit.使用MGIEasy Pa-SNP基因分型试剂盒进行复杂亲缘关系检测。
Int J Legal Med. 2025 May;139(3):1005-1017. doi: 10.1007/s00414-024-03376-z. Epub 2024 Dec 11.
4
HASCH - A high-throughput amplicon-based SNP-platform for medicinal cannabis and industrial hemp genotyping applications.HASCH - 一种高通量基于扩增子的 SNP 平台，用于药用大麻和工业大麻的基因分型应用。
BMC Genomics. 2024 Aug 29;25(1):818. doi: 10.1186/s12864-024-10734-z.
5
Reconstructing parent genomes using siblings and other relatives.利用兄弟姐妹及其他亲属重建亲代基因组。
bioRxiv. 2024 May 14:2024.05.10.593578. doi: 10.1101/2024.05.10.593578.
6
QTL identified that influence tuber length-width ratio, degree of flatness, tuber size, and specific gravity in a russet-skinned, tetraploid mapping population.在一个赤褐色表皮的四倍体作图群体中，鉴定出了影响块茎长宽比、扁平程度、块茎大小和比重的数量性状基因座。
Front Plant Sci. 2024 Mar 22;15:1343632. doi: 10.3389/fpls.2024.1343632. eCollection 2024.
7
Nanopore sequencing with T2T-CHM13 for accurate detection and preventing the transmission of structural rearrangements in highly repetitive heterochromatin regions in human embryos.利用 T2T-CHM13 的纳米孔测序技术，准确检测和预防人类胚胎中高度重复异染色质区域结构重排的传播。
Clin Transl Med. 2024 Mar;14(3):e1612. doi: 10.1002/ctm2.1612.
8
CoreSNP: an efficient pipeline for core marker profile selection from genome-wide SNP datasets in crops.CoreSNP：一种从作物全基因组 SNP 数据集中高效选择核心标记谱的流水线。
BMC Plant Biol. 2023 Nov 21;23(1):580. doi: 10.1186/s12870-023-04609-w.
9
Identification of QTL associated with plant vine characteristics and infection response to late blight, early blight, and Verticillium wilt in a tetraploid potato population derived from late blight-resistant Palisade Russet.在源自晚疫病抗性品种Palisade Russet的四倍体马铃薯群体中，鉴定与植株藤蔓特征以及对晚疫病、早疫病和黄萎病的感染反应相关的数量性状位点。
Front Plant Sci. 2023 Oct 11;14:1222596. doi: 10.3389/fpls.2023.1222596. eCollection 2023.
10
Developing best practices for genotyping-by-sequencing analysis in the construction of linkage maps.制定基于测序的基因型分析在连锁图谱构建中的最佳实践。
Gigascience. 2022 Dec 28;12. doi: 10.1093/gigascience/giad092. Epub 2023 Oct 27.
本文引用的文献
1
Optimization by simulated annealing.模拟退火优化。
Science. 1983 May 13;220(4598):671-80. doi: 10.1126/science.220.4598.671.
2
Sequential tests for the detection of linkage.用于检测连锁的序贯检验。
Am J Hum Genet. 1955 Sep;7(3):277-318.
3
Information gain in joint linkage analysis.联合连锁分析中的信息增益
IMA J Math Appl Med Biol. 1984;1(1):31-49. doi: 10.1093/imammb/1.1.31.
4
Strategies for multilocus linkage analysis in humans.人类多位点连锁分析策略。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443-6. doi: 10.1073/pnas.81.11.3443.
5
Easy calculations of lod scores and genetic risks on small computers.在小型计算机上轻松计算连锁分析计分和遗传风险。
Am J Hum Genet. 1984 Mar;36(2):460-5.
6
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.利用限制性片段长度多态性构建人类遗传连锁图谱。
Am J Hum Genet. 1980 May;32(3):314-31.
7
A general model for the genetic analysis of pedigree data.家系数据遗传分析的通用模型。
Hum Hered. 1971;21(6):523-42. doi: 10.1159/000152448.
8
Construction of human linkage maps: likelihood calculations for multilocus linkage analysis.人类连锁图谱的构建：多位点连锁分析的似然计算
Genet Epidemiol. 1986;3(1):39-52. doi: 10.1002/gepi.1370030105.
9
Multipoint linkage analysis.多点连锁分析
Am J Hum Genet. 1986 Jun;38(6):868-83.
10
Strategies for studying heterogeneous genetic traits in humans by using a linkage map of restriction fragment length polymorphisms.利用限制性片段长度多态性连锁图谱研究人类异质性遗传性状的策略。
Proc Natl Acad Sci U S A. 1986 Oct;83(19):7353-7. doi: 10.1073/pnas.83.19.7353.
Zotero 插件