中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
1期
26-30
,共5页
陈占玲%温鹏强%王国兵%胡宇慧%刘晓红%陈黎%陈淑丽%万力生%崔冬
陳佔玲%溫鵬彊%王國兵%鬍宇慧%劉曉紅%陳黎%陳淑麗%萬力生%崔鼕
진점령%온붕강%왕국병%호우혜%류효홍%진려%진숙려%만력생%최동
丙酸血症%丙酰CoA酶羧化酶%PCCA基因%PCCB基因%遗传代谢病
丙痠血癥%丙酰CoA酶羧化酶%PCCA基因%PCCB基因%遺傳代謝病
병산혈증%병선CoA매최화매%PCCA기인%PCCB기인%유전대사병
Propionic acidemia%Propionyl-CoA carboxylase%PCCA gene%PCCB gene%Inborn errors of metabolism
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+ 5del5、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.
目的 探討10例中國丙痠血癥患兒PCCA和PCCB的基因突變類型.方法 提取10例患兒外週血基因組DNA標本,應用PCR技術擴增PCCA和PCCB基因共39箇外顯子及其側翼區序列.擴增產物直接測序,確定基因突變類型.結果 通過測序結果分析,證實7例患兒攜帶有PCCA基因突變,2例患兒攜帶PCCB基因突變,1例患兒同時攜帶有PCCA和PCCB基因突變.共檢測齣10種基因突變,其中8種為PCCA基因突變,2種為PCCB基因突變.3種PCCA基因型(c.245G＞A、IVS15+ 5del5、c.1288C＞T)和兩種PCCB基因型(c.838insC、c.1087T＞C)為新髮現的突變.結論 中國丙痠血癥患兒以PCCA基因突變為主.
목적 탐토10례중국병산혈증환인PCCA화PCCB적기인돌변류형.방법 제취10례환인외주혈기인조DNA표본,응용PCR기술확증PCCA화PCCB기인공39개외현자급기측익구서렬.확증산물직접측서,학정기인돌변류형.결과 통과측서결과분석,증실7례환인휴대유PCCA기인돌변,2례환인휴대PCCB기인돌변,1례환인동시휴대유PCCA화PCCB기인돌변.공검측출10충기인돌변,기중8충위PCCA기인돌변,2충위PCCB기인돌변.3충PCCA기인형(c.245G＞A、IVS15+ 5del5、c.1288C＞T)화량충PCCB기인형(c.838insC、c.1087T＞C)위신발현적돌변.결론 중국병산혈증환인이PCCA기인돌변위주.
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.
