[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
[Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia].
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DOI：
10.3760/cma.j.issn.1003-9406.2015.01.006
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发表时间：
2015-02-01
期刊：
影响因子：
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通讯作者：
Li, Chengrong
中科院分区：
文献类型：
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作者：
Chen, Zhanling;Wen, Pengqiang;Li, Chengrong
目的：分析10例中国丙酸血症（PA）患者PCCA和PCCB基因突变情况。方法：提取外周血白细胞基因组DNA。采用聚合酶链式反应扩增PCCA和PCCB基因的39个外显子和侧翼序列，并进行直接DNA测序。结果：DNA测序显示7例患者携带PCCA基因突变，2例患者携带PCCB基因突变，1例患者同时携带PCCA和PCCB基因突变。确认了 10 种 PA 突变，其中 8 种影响 PCCA 基因，2 种影响 PCCB 基因。首次发现3个PCCA突变c.245G>A、IVS15+5del5、c.1288C>T和2个PCCB突变c.838insC、c.1087T>C。结论：中国丙酸血症患者中，其基因突变主要发现在PCCA基因上。
OBJECTIVE: To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic acidemia(PA).METHODS: Genomic DNA was extracted from peripheral blood leukocytes. The 39 exons and flanking sequences of the PCCA and PCCB genes were amplified with polymerase chain reaction and subjected to direct DNA sequencing.RESULTS: DNA sequencing has revealed that 7 patients have carried a PCCA gene mutation, 2 patients carried PCCB gene mutation and 1 patient carried mutations in both PCCA and PCCB genes. Ten PA mutations were confirmed, including 8 affecting the PCCA gene and 2 affecting the PCCB gene. Three PCCA mutations c.245G>A, IVS15+5del5, c.1288C>T and 2 PCCB mutations c.838insC, c.1087T>C were found for the first time.CONCLUSION: Among Chinese patients with propionic acidemia patients, their genetic mutations are mainly found on the PCCA gene.