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A review of the molecular genetics of the human alpha-globin gene cluster.

作者信息

Higgs D R, Vickers M A, Wilkie A O, Pretorius I M, Jarman A P, Weatherall D J

机构信息

Nuffield Department of Clinical Medicine, John Radcliff Hospital, Oxford, England.

出版信息

Blood. 1989 Apr;73(5):1081-104.

PMID:2649166
Abstract
摘要

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1
A review of the molecular genetics of the human alpha-globin gene cluster.人类α-珠蛋白基因簇的分子遗传学综述。
Blood. 1989 Apr;73(5):1081-104.
2
(Alpha)alpha 5.3: a novel alpha(+)-thalassemia deletion with the breakpoints in the alpha 2-globin gene and in close proximity to an Alu family repeat between the psi alpha 2- and psi alpha 1-globin genes.（α）α5.3：一种新型的α（+）-地中海贫血缺失型，其断点位于α2-珠蛋白基因以及ψα2-和ψα1-珠蛋白基因之间靠近一个Alu家族重复序列的位置。
Blood. 1991 Nov 15;78(10):2740-6.
3
Molecular analysis of deletions in the human beta-globin gene cluster: deletion junctions and locations of breakpoints.人类β-珠蛋白基因簇缺失的分子分析：缺失连接点和断点位置
Genomics. 1990 Feb;6(2):226-37. doi: 10.1016/0888-7543(90)90561-8.
4
A deletion/inversion rearrangement of the beta-globin gene cluster in a Turkish family with delta beta zero-thalassemia intermedia.一个患有中间型δβ0地中海贫血的土耳其家族中β-珠蛋白基因簇的缺失/倒位重排。
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Alpha alpha alpha alpha anti-3.7 type II: a new alpha-globin gene rearrangement suggesting that the alpha-globin gene duplication could be caused by intrachromosomal recombination.αααα抗3.7 II型：一种新的α珠蛋白基因重排，提示α珠蛋白基因重复可能由染色体内重组引起。
Hum Genet. 1992 Apr;89(1):37-41. doi: 10.1007/BF00207039.
6
The alpha-thalassemias.α地中海贫血
Ann N Y Acad Sci. 1990;612:15-22. doi: 10.1111/j.1749-6632.1990.tb24286.x.
7
Haematological phenotypes in a family with triplicated alpha-globin gene, beta zero 39 and delta+27 thalassaemia mutations.一个具有α-珠蛋白基因三倍体、β⁰39和δ+27地中海贫血突变的家族中的血液学表型。
Clin Lab Haematol. 1992;14(4):289-92.
8
Beta-thalassemia major resulting from a compound heterozygosity for the beta-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene.β-珠蛋白基因突变导致的复合杂合性重型β地中海贫血：地中海贫血基因多起源和迁移的进一步证据。
Hum Genet. 1992 May;89(3):343-6. doi: 10.1007/BF00220556.
9
Human alpha-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3' of the zeta-globin gene.人类α-珠蛋白基因的表达因16号染色体短臂从ζ-珠蛋白基因3'端紧邻处开始的末端截短而沉默。
Hum Genet. 1992 May;89(3):323-8. doi: 10.1007/BF00220551.
10
Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster.由人类α珠蛋白基因簇上游一个大的（62 kb）缺失引起的α地中海贫血。
Blood. 1990 Jul 1;76(1):221-7.

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