TAP1 polymorphisms in several human ethnic groups:: Characteristics, evolution, and genotyping strategies
TAP1 polymorphisms in several human ethnic groups:: Characteristics, evolution, and genotyping strategies
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DOI：
10.1016/s0198-8859(00)00259-7
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发表时间：
2001-03-01
期刊：
影响因子：
2.7
通讯作者：
Kaslow, RA
中科院分区：
文献类型：
--
作者：
Tang, JM;Freedman, DO;Kaslow, RA
使用来自白种人、非洲人、巴西人的样本系统地研究了编码与抗原加工相关的转运蛋白亚基 1 (TAP1) 的基因座的遗传变异，并与来自黑猩猩的数据进行了比较。通过单链构象多态性 (SSCP) 和测序分析对应于 11 个外显子的 PCR 扩增基因组序列。发现 6 个非同义和 2 个同义单核苷酸多态性 (SNP) 在一个或另一个种族群体中很常见，它们涉及外显子 3 中的密码子 254 (Gly-GGC/Gly-GGT)、外显子 4 中的 333 (Ile-ATC/Val-GTC)、外显子 5 中的 370 (Ala-GCT/Val-GTT)，- 458 (Val-GTG/Leu-TTG) 位于外显子 6,518 中 (Val-GTC/Ile-ATC) 位于外显子 7 中、637 (Asp-GAC/Gly-GGC)、648 (Arg-CGA/Gln-CAA) 和 661 (Pro-CCG/Pro-CCA) 位于外显子 10 中。在每个 SNP 位点，首先列出的序列占主导地位。：在所有种族中组。无论种群和物种如何，多个 SNP 都分离在同一条染色体上。这些 SNP 共同产生了 5 个主要的人类 TAP1 等位基因，其中 4 个与官方认可的等位基因 *0101、*02011、*0301 和 *0401 相匹配；第 5 个等位基因与每个等位基因至少有 4 个 SNP 不同。总体而言，TAP1*0101 是所有种族中的主要等位基因，频率范围从赞比亚人的 0.667 到美国白种人的 0.808。 TAP1*0401 频率显示非洲人 (0.221-0.254) 和白种人 (0.033) 之间差异最大，巴西人 (0.058) 位于中间。与早期基于白种人和大猩猩的研究一致，*0101 似乎是最新的人类 TAP1 等位基因，表明 *0101 急剧传播到所有接受检查的人群中。 TAP1 多态性的表征允许设计基于 PCR 的基因分型方案，该方案针对 7 个 SNP 位点并需要 2 种独立的基因分型技术。人类免疫学 62, 256-268 (2001)。 (C) 美国组织相容性和免疫遗传学学会，2001 年。由 Elsevier Science Inc. 出版。
Genetic variations in the locus encoding the transporter associated with antigen processing, subunit 1 (TAP1), were systematically studied using samples from Caucasians, Africans, Brazilians, and compared with data from:chimpanzees. PCR-amplified genomic se quences corresponding to the 11 exons were analyzed by single-strand conformation polymorphism (SSCP) and sequencing. Six nonsynonymous and 2 synonymous single nucleotide polymorphisms (SNPs) were found to be common in-one ethnic group or another, and they involved codons 254 (Gly-GGC/Gly-GGT) in exon 3, 333 (Ile-ATC/Val-GTC) in exon 4, 370 (Ala-GCT/Val-GTT) in exon 5,- 458 (Val-GTG/Leu-TTG) in exon 6,518 (Val-GTC/Ile-ATC) in exon 7, 637 (Asp-GAC/Gly-GGC), 648 (Arg-CGA/Gln-CAA) and 661 (Pro-CCG/Pro-CCA) in exon 10. At each SNP site the sequence listed first was predominant.:in all ethnic groups. Several SNPs segregated on the same chromosome regardless of populations and species. Together, the SNPs produced 5 major human TAP1 alleles, 4 of which matched the officially recognized alleles *0101, *02011, *0301, and *0401; the 5th allele differed from each of those by at least 4 SNPs. Overall, TAP1*0101 was the predominant allele in all ethnic groups, with frequencies ranging from 0.667 in Zambians to 0.808 in US Caucasians. The TAP1*0401 frequency showed the greatest difference between Africans (0.221-0.254) and Caucasians (0.033), with Brazilians (0.058) fitting in the middle. Consistent with earlier work based on Caucasians and gorillas, *0101 appeared to be the newest human TAP1 allele, suggesting a dramatic spread of *0101 into all human populations examined. Characterization of TAP1 polymorphisms allowed the design of a PCR-based genotyping scheme that targeted 7 SNP sites and required 2 separate genotyping techniques. Human Immunology 62, 256-268 (2001). (C) American Society for Histocompatibility and Immunogenetics, 2001. Published by Elsevier Science Inc.