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引用次数: 0

摘要

描述了人类IgLC2基因的一个新的等位基因形式。该标记涉及C lambda 2恒定区基因的T到C替换,氨基酸编码位置178 (YAASSYLSL)的沉默替换和3'侧区的两个替换。对60个个体的IgLC2等位基因的分析表明,新等位基因的频率为0.32,被命名为IgLC2*B2。*B1和*B2等位基因分别在IgLC2编码区核苷酸第212位编码T和C。*B1和*B2等位基因均存在于IgLC2/IgLC3单拷贝RFLP等位基因纯合的个体中(8 kb EcoRI)。了解该标记的等位基因对于研究IgLC2和IgLC3同型在正常和自身免疫淋巴细胞群体中的表达非常重要,因为这两种同型的编码区仅在这个位置不同。该标记也将有助于进一步研究与其他IgLV和IgLC标记的联系,并确定与自身免疫性疾病易感性的可能相关性。
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A new coding region polymorphism of human IgLC2
A new allelic form of the human IgLC2 gene is described. The marker involves a T to C substitution in the C lambda 2 constant region gene, a silent substitution at amino acid coding position 178 (YAASSYLSL) and two substitutions in the 3'-flanking region. Analysis of IgLC2 alleles in a total of 60 individuals has indicated a frequency of 0.32 for the new allele, which has been designated IgLC2*B2. The *B1 and *B2 alleles encode T and C, respectively, at nucleotide position 212 in the IgLC2 coding region. Both the *B1 and *B2 alleles are found in individuals homozygous for the single-copy RFLP allele of IgLC2/IgLC3 (8 kb EcoRI). Knowledge of alleles of this marker will be important for studies on the expression of the IgLC2 and IgLC3 isotypes in normal and autoimmune lymphocyte populations, as the coding regions of the two isotypes differ only at this position. The marker will also be useful in further studies of linkage with other IgLV and IgLC markers and to establish possible correlations with susceptibility to autoimmune disorders.
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