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编码IFN-α17b的干扰素-α17基因的一个新等位基因是人类群体中的主要变体。

A new allele of interferon-alpha17 gene encoding IFN-alpha17b is the major variant in human population.

作者信息

Hussain M, Tan T, Ni D, Gill D S, Liao M J

机构信息

Interferon Sciences, Inc., New Brunswick, NJ 08901, USA.

出版信息

J Interferon Cytokine Res. 1998 Jul;18(7):469-77. doi: 10.1089/jir.1998.18.469.

Abstract

Thirteen interferon (IFN)-alpha functional genes have been reported. Among these, a number of genes have allelic members (variants). In the case of IFN-alpha17, five variants, IFN-alpha17a, IFN-alpha17b, IFN-alpha17c, IFN-alpha17d, and IFN-alphaT, are known. The variants differ from each other by base changes in the coding region, leading to differences in amino acid sequences. We have developed oligonucleotide primers for amplification of IFN-alpha17 gene(s) using polymerase chain reaction (PCR). Genomic DNA, obtained from over 28,000 normal healthy individuals and from four cell lines, were used as templates in PCR to amplify the IFN-alpha17 gene sequences. The resulting PCR products were analyzed by restriction endonuclease digestion and DNA sequencing to identify the presence of variant sequences. The results show that a new variant of IFN-alpha17 is abundantly present (approximately 70%) along with another variant, possibly IFN-alpha17c (approximately 30%), in the genomic DNA of the population examined. This new variant, the protein product of which is identical to IFN-alpha17b, differs from the gene for IFN-alpha17b by a point mutation. We have named it IFN-alpha17b', which is the only variant found in U-937, KG-1, and EB-3 cell lines. Namalwa cells have IFN-alpha17b' and, possibly, IFN-alpha17c in equal proportions.

摘要

已报道了13个干扰素(IFN)-α功能基因。其中,许多基因有等位成员(变体)。就IFN-α17而言,已知有5种变体,即IFN-α17a、IFN-α17b、IFN-α17c、IFN-α17d和IFN-αT。这些变体在编码区的碱基变化上彼此不同,导致氨基酸序列存在差异。我们开发了用于通过聚合酶链反应(PCR)扩增IFN-α17基因的寡核苷酸引物。从超过28000名正常健康个体和4种细胞系获得的基因组DNA用作PCR模板,以扩增IFN-α17基因序列。通过限制性内切酶消化和DNA测序分析所得的PCR产物,以鉴定变体序列的存在。结果表明,在所检测人群的基因组DNA中,一种新的IFN-α17变体大量存在(约70%),同时还有另一种变体,可能是IFN-α17c(约30%)。这种新变体的蛋白质产物与IFN-α17b相同,但其基因与IFN-α17b的基因存在一个点突变。我们将其命名为IFN-α17b',它是在U-937、KG-1和EB-3细胞系中发现的唯一变体。Namalwa细胞中IFN-α17b'和可能的IFN-α17c比例相等。

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