- 作者: 馬起; 蘇明婉; 張邦彥; 吳雪梅; 朱廣邦; 彭洪文; 鐘來如; 吳香達
- 作者服務機構: 榮民總醫院醫學研究部基因重組研究室; 榮民總醫院內科部血液科; 榮民總醫院婦產部
- 中文摘要:
本文分析了臺灣地區帶有β型海洋貧血症一個家族中六位成員之β球蛋白基因群內七個多元性核酸限制?切點
(Polymorphic restriction sites),其順次為:位於ε球蛋白基因5'端的Hinc II切點,分別位於Gγ與Aγ球蛋白基因上
之二個Hind III切點,位於,偽基因及位於其3'端的二個Hinc II切點,位於β球蛋白基因上之Aνa II切點,以及位於
β球蛋白基因3'端之Bam HI切點,並鑑定此家族中帶海洋貧血症突變點之染色體多元性切點單套型(haplotype)為“+
----++”。此單套型在地中海地區以及中國人β海洋貧血症之染色體上皆曾以相當高之頻率出現。此外,本文亦鑑
定了可供此家族日後作為海洋貧血症產前診斷的四個多元性切點。
e - 英文摘要: We have analysed seven polymorphic restriction sites of the human β-globin gene cluster of sixmembers of a Chinese family with a β-thalassemic sibling. The seven polymorphic sites analysed are theHincII site at the 5'-end of the ε-globin gene, the HindIII sites in the two γ-globin genes, two HincII siteswithin and at the 3'-end of the pseudogene, the AνaII site in the β-globin gene and the BamHI sitelocated at the 3' side of the β-globin gene. The chromosome has been identified to have a haplotypeof +----++ with respect to these seven polymorphic sites. This is also the most predominant haplotypeassociated with β-thalassemia in Mediterranean and Chinese populations (Chen et al., 1984; Orkin et al.,1982). Of the seven sites analysed in this family, four will be useful in prenatal diagnosis of β-thalassemiain subsequent pregnancies in the family.
- 中文關鍵字: β-globin gene; β-thalassemid; restriction fragment lengty polymorphism
- 英文關鍵字: --