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(A) The pedigree of a Chinese family with congenital NDI. (The proband is indicated by an arrow); (B) Amplification of the mutated allele in family members. The 1160 bp fragment for the presence of the deletion of the AVPR2 gene was amplified with the primer pair of 7F/9R. The fragments were observed in number I-2, II-3, II-4, III-1 and III-2, suggesting that number I-2, II-3 and II-4 were heterozygous for the same fragment deletion and GAG insertion mutation on X chromosome.
