对人类α-珠蛋白基因簇的分析揭示了一个信息丰富的遗传位点。
Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.
作者信息
Higgs D R, Wainscoat J S, Flint J, Hill A V, Thein S L, Nicholls R D, Teal H, Ayyub H, Peto T E, Falusi A G
出版信息
Proc Natl Acad Sci U S A. 1986 Jul;83(14):5165-9. doi: 10.1073/pnas.83.14.5165.
Abstract
Extensive molecular studies have characterized 15 dimorphic and 2 multiallelic genetic markers within the human alpha-globin gene cluster. Analysis of these markers in 9 populations has shown that the alpha-globin locus is remarkably polymorphic and is therefore an ideal marker on chromosome 16 for the construction of a human genetic linkage map. The combined analysis of 9 polymorphic markers has established alpha-globin haplotypes that provide the means to study the molecular genetics and common mutants of this cluster. The novel association of a conventional restriction fragment length polymorphism haplotype and linked, hypervariable regions of DNA should allow a comparison of the rate of change of such markers.
摘要
广泛的分子研究已对人类α-珠蛋白基因簇中的15个双态和2个多等位基因遗传标记进行了特征描述。对9个群体中这些标记的分析表明，α-珠蛋白基因座具有显著的多态性，因此是构建人类遗传连锁图谱的16号染色体上的理想标记。对9个多态性标记的联合分析确定了α-珠蛋白单倍型，这为研究该基因簇的分子遗传学和常见突变体提供了手段。传统限制性片段长度多态性单倍型与相连的DNA高变区之间的新关联应能对这些标记的变化率进行比较。
相似文献
1
Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus.对人类α-珠蛋白基因簇的分析揭示了一个信息丰富的遗传位点。
Proc Natl Acad Sci U S A. 1986 Jul;83(14):5165-9. doi: 10.1073/pnas.83.14.5165.
2
Meiotic recombination between two polymorphic restriction sites within the beta globin gene cluster.β珠蛋白基因簇内两个多态性限制酶切位点之间的减数分裂重组。
J Med Genet. 1986 Feb;23(1):14-8. doi: 10.1136/jmg.23.1.14.
3
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.
4
Highly variable regions of DNA flank the human alpha globin genes.人类α珠蛋白基因两侧是DNA的高度可变区域。
Nucleic Acids Res. 1981 Sep 11;9(17):4213-24. doi: 10.1093/nar/9.17.4213.
5
VNTR alleles associated with the alpha-globin locus are haplotype and population related.与α-珠蛋白基因座相关的可变数目串联重复序列（VNTR）等位基因与单倍型和群体相关。
Am J Hum Genet. 1994 Sep;55(3):513-25.
6
Allelic variation and linkage properties of a highly polymorphic restriction fragment in humans.人类中一个高度多态性限制性片段的等位基因变异和连锁特性。
Mol Biol Med. 1984 Jun;2(3):223-38.
7
Genetic organization of the polymorphic equine alpha globin locus and sequence of the BII alpha 1 gene.多态性马α珠蛋白基因座的遗传组织及BIIα1基因序列
Nucleic Acids Res. 1984 Oct 25;12(20):7847-58. doi: 10.1093/nar/12.20.7847.
8
Nonrandom association of polymorphic restriction sites in the beta-globin gene cluster.β-珠蛋白基因簇中多态性限制性位点的非随机关联。
Proc Natl Acad Sci U S A. 1982 Jan;79(1):137-41. doi: 10.1073/pnas.79.1.137.
9
Persistence or rapid generation of DNA length polymorphism at the zeta-globin locus of humans.人类ζ-珠蛋白基因座处DNA长度多态性的持续存在或快速产生。
Genetics. 1986 Jan;112(1):79-92. doi: 10.1093/genetics/112.1.79.
10
The alpha-globin pseudogene on mouse chromosome 17 is closely linked to H-2.小鼠17号染色体上的α-珠蛋白假基因与H-2紧密连锁。
J Exp Med. 1984 Mar 1;159(3):958-63. doi: 10.1084/jem.159.3.958.
引用本文的文献
1
Hemoglobin Variants as Targets for Stabilizing Drugs.作为稳定药物靶点的血红蛋白变体
Molecules. 2025 Jan 17;30(2):385. doi: 10.3390/molecules30020385.
2
The History and Challenges of Women in Genetics: A Focus on Non-Western Women.遗传学领域女性的历史与挑战：聚焦非西方女性
Front Genet. 2021 Nov 25;12:759662. doi: 10.3389/fgene.2021.759662. eCollection 2021.
3
The molecular basis of α-thalassemia.α-地中海贫血的分子基础。
Cold Spring Harb Perspect Med. 2013 Jan 1;3(1):a011718. doi: 10.1101/cshperspect.a011718.
4
Alpha-thalassaemia.阿尔法-地中海贫血症。
Orphanet J Rare Dis. 2010 May 28;5:13. doi: 10.1186/1750-1172-5-13.
5
2003 William Allan Award address. The Thalassemias: the role of molecular genetics in an evolving global health problem.2003年威廉·艾伦奖演讲。地中海贫血：分子遗传学在一个不断演变的全球健康问题中的作用。
Am J Hum Genet. 2004 Mar;74(3):385-92. doi: 10.1086/381402.
6
BamHI polymorphism of locus D2S44 in a West German population as revealed by VNTR probe YNH24.用VNTR探针YNH24揭示的西德人群中D2S44位点的BamHI多态性
Int J Legal Med. 1990 Dec;104(1):33-8. doi: 10.1007/BF01816481.
7
Cloning and characterization of the mouse alpha globin cluster and a new hypervariable marker.小鼠α珠蛋白基因簇的克隆与特性分析及一种新的高变标记
Mamm Genome. 1996 Oct;7(10):749-53. doi: 10.1007/s003359900225.
8
9
Why are some genetic diseases common? Distinguishing selection from other processes by molecular analysis of globin gene variants.为什么有些遗传疾病很常见？通过对珠蛋白基因变异进行分子分析来区分选择与其他过程。
Hum Genet. 1993 Mar;91(2):91-117. doi: 10.1007/BF00222709.
10
Loss of heterozygosity and K-ras gene mutations in gastric cancer.胃癌中的杂合性缺失和K-ras基因突变
Hum Genet. 1993 Oct 1;92(3):244-9. doi: 10.1007/BF00244466.
本文引用的文献
1
2
Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromosomes 15 and 16.交叉分布、遗传长度和重组率：15号与16号染色体的比较
J Med Genet. 1983 Aug;20(4):290-9. doi: 10.1136/jmg.20.4.290.
3
The molecular basis of alpha-thalassaemia in Thailand.泰国α地中海贫血的分子基础。
EMBO J. 1984 Aug;3(8):1813-8. doi: 10.1002/j.1460-2075.1984.tb02051.x.
4
The chromosomal arrangement of human alpha-like globin genes: sequence homology and alpha-globin gene deletions.人类α-珠蛋白基因的染色体排列：序列同源性与α-珠蛋白基因缺失
Cell. 1980 May;20(1):119-30. doi: 10.1016/0092-8674(80)90240-8.
5
Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus.血清白蛋白基因座处DNA变异（限制性酶切片段长度多态性）的连锁不平衡及进化关系。
Proc Natl Acad Sci U S A. 1984 Jun;81(11):3486-90. doi: 10.1073/pnas.81.11.3486.
6
Association of two DNA polymorphisms in the alpha-globin gene cluster: implications for genetic analysis.α-珠蛋白基因簇中两个DNA多态性的关联：对遗传分析的意义。
Am J Hum Genet. 1983 Nov;35(6):1086-9.
7
Molecular basis of length polymorphism in the human zeta-globin gene complex.人类ζ-珠蛋白基因复合体长度多态性的分子基础。
Proc Natl Acad Sci U S A. 1983 Aug;80(16):5022-6. doi: 10.1073/pnas.80.16.5022.
8
The structure of the human zeta-globin gene and a closely linked, nearly identical pseudogene.人类ζ-珠蛋白基因及一个紧密相连、几乎相同的假基因的结构。
Cell. 1982 Dec;31(3 Pt 2):553-63. doi: 10.1016/0092-8674(82)90311-7.
9
Multiple arrangements of the human embryonic zeta globin genes.人类胚胎ζ珠蛋白基因的多种排列方式。
Nucleic Acids Res. 1982 Oct 11;10(19):5853-68. doi: 10.1093/nar/10.19.5853.
10
Highly variable regions of DNA flank the human alpha globin genes.人类α珠蛋白基因两侧是DNA的高度可变区域。
Nucleic Acids Res. 1981 Sep 11;9(17):4213-24. doi: 10.1093/nar/9.17.4213.
Zotero 插件