Genetic Screening for Wilson's Disease

Genomic DNA was extracted using Blood Genomic Extraction Kit (Qiagen, Hilden, Germany) from peripheral EDTA-treated blood. The ATP7B variants of patients and their relatives were verified through Sanger sequencing, with a procedure described in our previous report [24 (link)]. For patients who were detected with only one heterozygous pathogenic variant, we performed multiplex ligation-dependent probe amplification assay (MLPA) with the ATP7B MLPA kit (SALSA P098-D1, MRC-Holland, the Netherlands) [25 (link)].

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Yang G.M., Wang R.M., Xia N., Zheng Z.W., Dong Y, & Wu Z.Y. (2021). Prevalent Pathogenic Variants of ATP7B in Chinese Patients with Wilson’s Disease: Geographical Distribution and Founder Effect. Genes, 12(3), 336.

Publication 2021

Blood Genomic Extraction Kit

Assay Atp7b Blood Edta Genomic Heterozygous Multiplex ligation dependent probe amplification Pathogenic Patients

Corresponding Organization : Second Affiliated Hospital of Zhejiang University

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Variable analysis

independent variables

Genomic DNA extraction using Blood Genomic Extraction Kit (Qiagen, Hilden, Germany) from peripheral EDTA-treated blood

dependent variables

ATP7B variants of patients and their relatives

control variables

Sanger sequencing procedure described in previous report [24]
Multiplex ligation-dependent probe amplification assay (MLPA) with the ATP7B MLPA kit (SALSA P098-D1, MRC-Holland, the Netherlands) for patients with only one heterozygous pathogenic variant [25]

controls

Positive control: None specified
Negative control: None specified

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