基因座间亲缘关系的替代生物测定法。
Alternative bioassays of kinship between loci.
作者信息
Morton N E, Wu D
机构信息
Genetic Epidemiology Division, Memorial Sloan-Kettering Cancer Center, New York, NY 10021.
出版信息
Am J Hum Genet. 1988 Jan;42(1):173-7.
Abstract
In this study four asymptotically equivalent estimates of kinship are derived, in the general case and for kinship between multiallelic loci. Two estimates based on chi 2 agree closely, with the Shannon estimate giving the smaller variance. The PAH, GH, GM, and HBB systems conform to a recombinational model with an evolutionary size of approximately 4,000 and a ratio of recombination to physical distance of approximately 1.4 X 10(-5) morgans/kb, as predicted on the basis of the genetic and physical lengths of the human genome. The INS and D11S12 systems have a much more rapid decline of kinship with physical distance, suggesting overlapping RFLPs (unrecognized allelism), recombinational hot spots, or selection. Sources of error in predicting kinship over small distances are discussed.
摘要
在本研究中，推导了亲属关系的四种渐近等效估计值，适用于一般情况以及多等位基因座之间的亲属关系。基于卡方的两种估计值非常接近，香农估计值的方差较小。苯丙氨酸羟化酶（PAH）、生长激素（GH）、免疫球蛋白（GM）和血红蛋白β（HBB）系统符合重组模型，其进化大小约为4000，重组与物理距离的比率约为1.4×10⁻⁵摩根/千碱基对，这与根据人类基因组的遗传长度和物理长度所预测的一致。胰岛素基因（INS）和11号染色体短臂上的一个位点（D11S12）系统的亲属关系随物理距离下降得更快，这表明存在重叠的限制性片段长度多态性（未识别的等位基因）、重组热点或选择作用。讨论了在小距离上预测亲属关系时的误差来源。
相似文献
1
Alternative bioassays of kinship between loci.基因座间亲缘关系的替代生物测定法。
Am J Hum Genet. 1988 Jan;42(1):173-7.
2
Mapping genetic systems by the supratype method.
Hum Genet. 1985;70(3):231-5. doi: 10.1007/BF00273447.
3
Linkage disequilibria between pairs of loci within a highly polymorphic region of chromosome 2Q.2号染色体Q臂高度多态性区域内基因座对之间的连锁不平衡。
Am J Hum Genet. 1986 Aug;39(2):166-78.
4
Molecular characterization of meiotic recombination across the 140-kb multigenic a1-sh2 interval of maize.玉米140千碱基多基因a1-sh2区间减数分裂重组的分子特征分析
Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6157-62. doi: 10.1073/pnas.082562199. Epub 2002 Apr 16.
5
6
Linkage disequilibrium analyses and restriction mapping of four RFLPs at the pro alpha 2(I) collagen locus: lack of correlation between linkage disequilibrium and physical distance.α1（I）前胶原基因座处四个限制性片段长度多态性（RFLP）的连锁不平衡分析及限制酶切图谱：连锁不平衡与物理距离之间缺乏相关性
Hum Genet. 1988 Mar;78(3):216-21. doi: 10.1007/BF00291664.
7
Identification of a recent recombination event within the human beta-globin gene cluster.人类β-珠蛋白基因簇内近期重组事件的鉴定。
Proc Natl Acad Sci U S A. 1984 Dec;81(24):7875-9. doi: 10.1073/pnas.81.24.7875.
8
A genetic linkage map of 41 restriction fragment length polymorphism markers for human chromosome 3.人类3号染色体41个限制性片段长度多态性标记的遗传连锁图谱。
Genomics. 1991 Nov;11(3):565-72. doi: 10.1016/0888-7543(91)90063-k.
9
Recombination of haplotypes leads to biased estimates of admixture proportions in human populations.单倍型的重组导致了对人类群体混合比例的偏差估计。
Proc Natl Acad Sci U S A. 1988 May;85(9):3071-4. doi: 10.1073/pnas.85.9.3071.
10
A genetic linkage map with 29 loci spanning human chromosome 13q.
Genomics. 1993 May;16(2):515-9. doi: 10.1006/geno.1993.1219.
引用本文的文献
1
Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa).利用挪威母婴队列研究（MoBa）对发育早期被认定为自闭症风险的儿童进行功能预后评估。
J Autism Dev Disord. 2021 Mar;51(3):922-932. doi: 10.1007/s10803-020-04539-8.
2
High-resolution association mapping of quantitative trait loci: a population-based approach.数量性状基因座的高分辨率关联图谱绘制：一种基于群体的方法。
Genetics. 2006 Jan;172(1):663-86. doi: 10.1534/genetics.105.046417. Epub 2005 Sep 19.
3
The first linkage disequilibrium (LD) maps: delineation of hot and cold blocks by diplotype analysis.首张连锁不平衡（LD）图谱：通过双倍型分析描绘冷热区域。
Proc Natl Acad Sci U S A. 2002 Feb 19;99(4):2228-33. doi: 10.1073/pnas.042680999. Epub 2002 Feb 12.
4
The optimal measure of allelic association.等位基因关联的最佳测量方法。
Proc Natl Acad Sci U S A. 2001 Apr 24;98(9):5217-21. doi: 10.1073/pnas.091062198. Epub 2001 Apr 17.
5
Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data.利用方差成分模型对同胞数据进行数量性状连锁分析与关联分析的功效比较。
Am J Hum Genet. 2000 May;66(5):1616-30. doi: 10.1086/302891. Epub 2000 Apr 12.
6
Genetic epidemiology of single-nucleotide polymorphisms.单核苷酸多态性的遗传流行病学
Proc Natl Acad Sci U S A. 1999 Dec 21;96(26):15173-7. doi: 10.1073/pnas.96.26.15173.
7
Allelic association between marker loci.标记位点之间的等位基因关联。
Proc Natl Acad Sci U S A. 1999 Feb 16;96(4):1621-6. doi: 10.1073/pnas.96.4.1621.
8
Mapping a disease locus by allelic association.通过等位基因关联定位疾病基因座。
Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1741-5. doi: 10.1073/pnas.95.4.1741.
9
Kinship bioassay on hypervariable loci in blacks and Caucasians.黑人和高加索人高变位点的亲属关系生物测定
Proc Natl Acad Sci U S A. 1993 Mar 1;90(5):1892-6. doi: 10.1073/pnas.90.5.1892.
10
Genetic structure of forensic populations.法医群体的遗传结构。
Am J Hum Genet. 1994 Sep;55(3):587-8.
本文引用的文献
1
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa.非洲镰状细胞血红蛋白基因多中心起源的证据。
Proc Natl Acad Sci U S A. 1984 Mar;81(6):1771-3. doi: 10.1073/pnas.81.6.1771.
2
Kinship mapping of multilocus systems.
Hum Genet. 1983;64(2):103-4. doi: 10.1007/BF00327102.
3
Nonuniform recombination within the human beta-globin gene cluster.人类β-珠蛋白基因簇内的不均一重组
Am J Hum Genet. 1984 Nov;36(6):1239-58.
4
A locus on chromosome 11p with multiple restriction site polymorphisms.11号染色体短臂上具有多个限制性酶切位点多态性的一个基因座。
Am J Hum Genet. 1984 Nov;36(6):1159-71.
5
Patterns of polymorphism and linkage disequilibrium suggest independent origins of the human growth hormone gene cluster.多态性和连锁不平衡模式表明人类生长激素基因簇有独立的起源。
Proc Natl Acad Sci U S A. 1984 Oct;81(19):6085-9. doi: 10.1073/pnas.81.19.6085.
6
Bioassay of kinship.亲属关系生物测定
Theor Popul Biol. 1971 Dec;2(4):507-24. doi: 10.1016/0040-5809(71)90038-4.
7
Genetic analysis of eight linked polymorphisms within the human immunoglobulin heavy-chain region.人类免疫球蛋白重链区域内八个连锁多态性的遗传分析。
Am J Hum Genet. 1985 Nov;37(6):1146-63.
8
Mapping genetic systems by the supratype method.
Hum Genet. 1985;70(3):231-5. doi: 10.1007/BF00273447.
9
Nonuniform recombination within the human beta-globin gene cluster.人类β-珠蛋白基因簇内的不均匀重组
Am J Hum Genet. 1986 May;38(5):776-81.
10
Evidence for increased recombination near the human insulin gene: implication for disease association studies.人类胰岛素基因附近重组增加的证据：对疾病关联研究的启示。
Proc Natl Acad Sci U S A. 1986 Feb;83(4):1045-9. doi: 10.1073/pnas.83.4.1045.
Zotero 插件