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Genetic characterization and protein stability analysis of a Chinese family with Von Hippel-Lindau disease

Chinese Medical Journal 2013年第19期126卷 3690-3693页

作者： GAO Yong HUANG Yan-ping TU Xiang-an LUO Dao-sheng WANG Dao-hu QIU Shao-peng XIANG Peng LI Wei-qiang rohozinski jan ZHANG Yuan-yuan SUN Xiang-zhou DENG Chun-hua Reproductive Medicine Center The Key Laboratory for ReproductiveMedicine of Guangdong Province First Affiliated Hospital of SunYat-sen University Guangzhou Guangdong 510080 China Shanghai Institute of Andrology Renji Hospital Affiliated ShanghaiJiao Tong University School of Medicine Shanghai 200001 China Department of Urology First Affiliated Hospital of Sun Yat-senUniversity Guangzhou Guangdong 510080 China

Background Von HippeI-Lindau disease （VHL）,a heritable autosomal dominant disease characterized by neoplasia in multiple organ systems,has rarely been reported in *** genetically investigated a unique Chinese family with VHL disease and performed an analysis of the VHL protein *** Genomic deoxyribonucleic acid （DNA） extracted from peripheral blood was amplified by polymerase chain reaction （PCR） to three exons of the VHL gene in 9 members of the Chinese family with VHL *** products were directly *** estimated the effects of VHL gene mutation on the stability of pVHL,which is indicated by the free energy difference between the wild-type and the mutant protein （△△G）.Results The Chinese family was classified as VHL type *** family members,including two patients and a carrier,had a T to G heterozygotic missense mutation at nucleotide 515 of the VHL gene exon *** missense mutation resulted in the transition from leucine to arginine in amino acid 101 of the VHL *** was low stability of the VHL protein （the △△G was 12.71 kcal/mol） caused by this missense *** We first reported a family with this VHL gene mutation in *** missense mutation is predicted to significantly reduce the stability of the VHL protein and contribute to the development of the renal cell carcinoma （RCC） phenotype displayed by this *** genetic characterization and protein stability analysis of families with VHL disease are important for early diagnosis and prevention of the disease being passed on to their offspring.

关键词： Von Hippel-Lindau disease renal cell carcinoma genetic test protein stability analysis

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