Fig. 2

The large deletion of AVPR2 gene in the Chinese NDI pedigree. a The presentation of the deletion on agarose gel electrophoresis of the NDI family members. M, 50 bp marker; N, negative control. b Schematic presentation of the large deletion in the Chinese NDI family. Arrows indicate genes; Solid horizontal lines indicate retained regions; Broken horizontal lines indicate deleted regions; Multiple primers were designed to be spaced every ~ 2.5 kb around the AVPR2 gene. Long-range PCR with the forward primer of the P3 and the reverse primer of the P9 generates a PCR product of ~ 2.5 kb. Nucleotide sequences at the deletion end point, and the lowercase letters indicate deleted sequences. c Sequencing of deletion breakpoint in the Chinese NDI family. The possible breakpoints are indicated with arrows