A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
J. Clin. Invest. Akihisa Sawada, et al. 112:1707 doi:10.1172/JCI18937 [Go to this article.]

Figure 1
Detection of the translocation site. (a) Spectral karyotyping (SKY) FISH. (b) FISH. Red boxes indicate probes hybridized to chromosome 20 and der20; yellow boxes indicate probes hybridized to chr_20 and der9. PAC dJ890O15 was hybridized to chromosome 20, der20, and der9. (c) Genomic Southern blot hybridization with the ET1033 probe. The arrowhead indicates the mutation. (d) Genomic PCR products from chromosome 20, der20, and der9. cen, centromere; tel, telomere. (e) Sequences of the translocation site. Chr_9, chromosome 9; chr_20, chromosome 20.