Human TAP1 polymorphisms detected by denaturing gradient gel electrophoresis.
Human TAP1 polymorphisms detected by denaturing gradient gel electrophoresis.
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通过变性梯度凝胶电泳检测人类 TAP1 多态性。
DOI：
10.1111/j.1399-0039.1997.tb02772.x
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
Faustman,D
中科院分区：
文献类型：
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作者：
Shi,L;Yan,G;Fu,Y;Ma,L;Penfornis,A;Faustman,D
主要组织相容性复合体I类（MHC）分子对内源性肽的提呈部分受MHC II类区域中编码异源二聚体肽转运蛋白的Tap 1和Tap 2基因控制。通过变性梯度凝胶电泳（DGGE）分析聚合酶链反应产生的基因组DNA片段，现已系统地研究了正常个体中人类Tap 1的多态性。通过DNA测序证实了由独特的DGGE条带模式鉴定的多态性。除了先前描述的开放阅读框中的四种多态性外，DGGE还检测到三种新的多态性：启动子区的GT取代，内含子9中的10-bp插入，以及翻译终止密码子下游80-bp的GT取代。
Presentation of endogenous peptides by major histocompatibility complex class I (MHC) molecules is controlled, in part, by theTap1andTap2genes in the MHC class II region that encode a heterodimeric peptide transporter. Polymorphisms of humanTap1in normal individuals have now been investigated systematically by denaturing gradient gel electrophoresis (DGGE) analysis of fragments of genomic DNA generated by the polymerase chain reaction. Polymorphisms identified by distinctive DGGE band patterns were confirmed by DNA sequencing. In addition to four previously described polymorphisms in the open reading frame, DGGE detected three new polymorphisms: a GT substitution in the promoter region, a 10‐bp insert in intron 9, and a GT substitution 80‐bp downstream of the translation termination codon.