Silva A J, Johnson J P, White R L
Nucleic Acids Res. 1987 May 11;15(9):3845-57. doi: 10.1093/nar/15.9.3845.
A cloned DNA segment 1.25 kilobases (kb) upstream from the joining segments of the human heavy chain immunoglobulin gene revealed extensive polymorphic variation at this locus, and the polymorphic pattern was stably transmitted to the next generation. Genomic restriction analysis showed that the polymorphism was caused by insertions/deletions within an MspI/BamHI fragment. Sequencing of one allele, 848 base pairs (bp) long, revealed eleven 50-base-pair tandem repeats. A second allele, 648 bp long, was cloned from a human genomic cosmid library, sequenced, and found to contain four fewer repeats than the first allele. A survey of 186 chromosomes from unrelated individuals of primarily northern European descent revealed at least six alleles.
在人类重链免疫球蛋白基因连接片段上游1.25千碱基（kb）处克隆的一个DNA片段显示，该位点存在广泛的多态性变异，且这种多态性模式可稳定地传递给下一代。基因组限制性分析表明，这种多态性是由MspI/BamHI片段内的插入/缺失引起的。对一个长度为848碱基对（bp）的等位基因进行测序，发现有11个50碱基对的串联重复序列。从人类基因组黏粒文库中克隆出第二个等位基因，其长度为648 bp，测序后发现其重复序列比第一个等位基因少四个。对来自主要为北欧血统的无关个体的186条染色体进行调查，发现至少有六个等位基因。
