从人类DNA的克隆图书馆中分离和描述链接的三角形和β-环球蛋白基因

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|December 1, 1978

概括

研究人员在克隆的DNA中确定了人类的三角形和β-环球蛋白基因. 这两种基因都含有大量的中间序列,其中的变异表明异构性同质染色体.

科学领域:

人类分子遗传学人类分子遗传学
基因结构和组织基因结构和组织
生物化学生化学

背景情况:

人类β-环球蛋白基因集群对于氧气运输至关重要.
了解球蛋白基因的结构有助于诊断和治疗相关贫血症.

研究的目的:

隔离和描述含有β-环球蛋白序列的人类胚胎DNA片段.
分析三角形和β-环球蛋白基因的结构和组织.

主要方法:

人类胚胎DNA库的构建和选.
使用人类β-环球蛋白cDNA探针进行杂交.
限制内核酶裂解分析,杂交实验和部分DNA测序.

主要成果:

他们分离了两个独立的克隆,其中包含了三角形和β-环球蛋白基因.
基因以5'-delta-beta-3'方向分离约5.4kB. 基因以5'-delta-beta-3'方向分离约5.4kB. 基因以5'-delta-beta-3'方向分离约5.4kB. 基因以5'-delta-beta-3'方向分离约5.4kB.
这两种基因都在相同的编码位置拥有很大的中间序列 (delta为950bp,β为900bp),但序列同质性较低.
在β-环球蛋白基因的5'端附近发现了第二个较小的中间序列.
在三角球蛋白基因中的Pst I限制位点差异表明了等位基因变异.

结论:

人类的三角形和β-环球蛋白基因紧密联系在一起,并具有共同的结构特征.
这些基因内的干预序列表现出显著的分歧.
观察到的限制位多态性表明同类染色体上Pst I位点的异构性.

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