Prenatal diagnosis

Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration

Y. N. Zong and X. Kong, Analysis and application of ATP7B gene mutations in 35 patients with hepatolenticular degeneration, vol. 14, pp. 18764-18770, 2015.

We investigated the genetic mutations involved in Wilson’s disease to improve prenatal genetic diagnosis and presymptomatic diagnosis. The polymerase chain reaction (PCR) was used to amplify the exons and exon-intron boundaries of the ATP7B gene in 35 Wilson’s disease pedigrees. The PCR products were further analyzed by Sanger sequencing. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of parents of the probands were identified. The overall mutation detection frequency was 92.9%.

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