Liu Qi, Chen Yiping, Chen Wei
Department of Pediatrics, the Second Hospital Affiliated to Wenzhou Medical University, Wenzhou, Zhejiang 325027, P.R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Apr;32(2):187-91. doi: 10.3760/cma.j.issn.1003-9406.2015.02.008.
To report on clinical features of four patients with glutaric academia type Ⅰ (GA-1) and mutations identified in the glutaryl-CoA dehydrogenase (GCDH) gene.
All of the patients underwent magnetic resonance imaging (MRI) analysis. Blood acylcarnitine and urine organic acid were analyzed with tandem mass spectrometry and gas chromatographic mass spectrometry. Genomic DNA was extracted from peripheral blood samples. The 11 exons and flanking sequences of the GCDH gene were amplified with PCR and subjected to direct DNA sequencing.
Mutations of the GCDH gene were identified in all of the patients. Three had homozygous mutations. A recurrent mutation, IVS10-2A>C, was found in the four unrelated families, while the mutation of c.245G>C (p.Arg82Pro) was novel.
IVS10-2A>C is likely a founder mutation for Chinese population in Wenzhou.
报告4例Ⅰ型戊二酸血症（GA-1）患者的临床特征以及在戊二酰辅酶A脱氢酶（GCDH）基因中鉴定出的突变。
所有患者均接受了磁共振成像（MRI）分析。采用串联质谱法和气相色谱 - 质谱法分析血酰基肉碱和尿有机酸。从外周血样本中提取基因组DNA。用聚合酶链反应（PCR）扩增GCDH基因的11个外显子及其侧翼序列，并进行直接DNA测序。
所有患者均鉴定出GCDH基因突变。3例为纯合突变。在4个无亲缘关系的家族中发现了一个复发性突变IVS10 - 2A>C，而c.245G>C（p.Arg82Pro）突变是新发现的。
IVS10 - 2A>C可能是温州汉族人群的一个始祖突变。
