丙酸血症患儿PCCA和PCCB基因突变分析  

Analysis of PCCA and PCCB gene mutations in patients with propionic acidemia

作　　者：陈占玲[1] 温鹏强[2] 王国兵[2] 胡宇慧[3] 刘晓红[4] 陈黎[3] 陈淑丽[3] 万力生[5] 崔冬[2] 赏月[4] 李成荣[2] 

机构地区：[1]广东省东莞市人民医院内分泌科,523018 [2]广东省深圳市儿童医院儿科研究所 [3]广东省深圳市儿童医院神经内科 [4]广东省深圳市儿童医院新生儿科 [5]广东省深圳市儿童医院中医科

出　　处：《中华医学遗传学杂志》2015年第1期26-30,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81102227）;深圳市医学重点学科专项经费（2001818、2001B19）;深圳市科技计划项目（医疗卫生类）重点项目（201201005）;深圳市科技计划项目（医疗卫生类）一般项目（201302107、201102068）;广东省医学科研基金（A2012582、A2013604）;深圳市科技研发资金项目（JCYJ20130401114111449）;东莞市医疗卫生科技计划一般项目（20l31051010102）;南京中医药大学中医学优势学科开放课题（YS2012ZYX212）

摘　　要：目的探讨10例中国丙酸血症患儿PccA和PCCB的基因突变类型。方法提取10例患儿外周血基因组DNA标本，应用PCR技术扩增PCCA和PCCB基因共39个外显子及其侧翼区序列。扩增产物直接测序，确定基因突变类型。结果通过测序结果分析，证实7例患儿携带有PCCA基因突变，2例患儿携带PCCB基因突变，1例患儿同时携带有PCCA和PCCB基因突变。共检测出10种基因突变，其中8种为PCCA基因突变，2种为PCCB基因突变。3种PCCA基因型（c．245G〉A、IVS15＋5de15、c．1288C〉T）和两种PCCB基因型（C．838insC、c．1087T〉C）为新发现的突变。结论中国丙酸血症患儿以PCCA基因突变为主。Objective To analyze PCCA and PCCB gene mutations in 10 Chinese patients with propionic aeidemia（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 i 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 PCCTA mutations c. 245G〉A, IVS15＋5de15, 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.

关 键 词：丙酸血症 丙酰CoA酶羧化酶 PCCA基因 PCCB基因 遗传代谢病 

分 类 号：R733.72[医药卫生—肿瘤]