Klobeck H G, Bornkamm G W, Combriato G, Mocikat R, Pohlenz H D, Zachau H G
Nucleic Acids Res. 1985 Sep 25;13(18):6515-29. doi: 10.1093/nar/13.18.6515.
The series of studies on the human K light chain genes of the various subgroups is concluded by this report on the isolation and nucleotide sequence determination of a functional VKIV gene (abbreviations ref. 1) and its germline counterpart. The rearranged gene which stems from a lymphoid cell line and the germline gene differ in four nucleotides which can be attributed to somatic mutations; three of the mutations are clustered in CDR3. The germline gene regions of two unrelated individuals were identical over a stretch of 1267 bp. By hybridization experiments it is shown that the human K locus contains only one VKIV gene. In 16 lymphoid cell lines studied here, the VKIV gene is frequently deleted or aberrantly rearranged which may be a consequence of peculiarities of its function and/or its structural organization.
本报告通过对一个功能性VKIV基因（缩写参考文献1）及其种系对应物的分离和核苷酸序列测定，完成了对不同亚组人类K轻链基因的一系列研究。源自淋巴样细胞系的重排基因与种系基因在四个核苷酸上存在差异，这可归因于体细胞突变；其中三个突变聚集在互补决定区3（CDR3）。两个不相关个体的种系基因区域在1267 bp的片段上是相同的。通过杂交实验表明，人类K基因座仅包含一个VKIV基因。在此研究的16个淋巴样细胞系中，VKIV基因经常缺失或异常重排，这可能是其功能和/或结构组织特殊性的结果。
