Screening of ARVC desmosomal protein gene mutation in people from Yunnan unexplained sudden death area in Xiangyun County, Dali Prefecture, Yunnan Province / 中华地方病学杂志

ABSTRACT

Objective:To investigate the mutation of desmosomal protein gene of arrhythmogenic right ventricular cardiomyopathy (ARVC) in people from Yunnan unexplained sudden death (YUSD) area in Xiangyun County, Dali Prefecture, Yunnan Province, and to explore the etiological relationship between the mutation of ARVC desmosomal protein gene and YUSD.Methods:The autopsy cardiac blood sample of YUSD case ( n = 1) and the peripheral venous blood samples of the same time case ( n = 1) and relatives of YUSD case ( n = 16) were collected in Xiangyun County. Blood DNA was extracted for PCR amplification and sequencing of a total of 97 exons of the ARVC desmosomal protein genes [plakophilin 2 (PKP2), junction plakoglobin (JUP), desmoplakin (DSP), desmoglein 2 (DSG2) and desmocollin 2 (DSC2)] were conducted by Sanger method. At the same time, basic information and genetic family of YUSD case, the same time case and relatives of YUSD case were investigated, and gene mutations were comprehensively analyzed. Results:The YUSD case and the same time case carried JUP, DSP and DSG2 gene mutations. Among the relatives of YUSD case, 2, 14, 16, 15 and 4 cases had mutations in PKP2, JUP, DSP, DSG2 and DSC2 genes, respectively. The YUSD case, the same time case and the relatives of YUSD case carried 6 identical mutation sites JUP gene exon 3 c.213 T>C synonymous mutation, exon 14 c.2089 A>T missense mutation; DSP gene exon 19 c.2631 G>A synonymous mutation, exon 24 c.8472 G>C synonymous mutation; DSG2 gene exon 8 c.861 C>T synonymous mutation, and exon 15 c.3321 T>C synonymous mutation.Conclusion:In Xiangyun County, six identical mutation sites (JUP gene c.213 T>C and c.2089 A>T, DSP gene c.2631 G>A and c.8472 G>C, DSG2 gene c.861 C>T and c.3321 T>C) carried by YUSD case, the same time case and the relatives of YUSD case may be related to the incidence of some YUSD cases.