Transposition of human immunoglobulin V kappa genes within the same chromosome and the mechanism of their amplification.

摘要: The variable, joining and constant gene segments of the human immunoglobulin kappa locus (V kappa, J C kappa) are located on short arm chromosome 2 at 2p11-2p12. Here we describe a cluster 11 V genes long 2cen-q11. By pulsed-field gel electrophoresis, cosmid cloning DNA sequencing was shown to consist four amplified units (amplicons). amplicons, each 110-160 kb in size, organized within 650 as an array inverted repeats with stretches non-amplified between. Cloning three different joints between revealed existence parts Alu analysed joints. It is suggested that during evolution group five transposed from by pericentric inversion. Three were then two subsequent steps yield structure found majority present day population. possible relation this inversion seen cytogenetically small fraction today's population discussed.