Chen Jing, Wang Zhao-xia, Zhang Jin-li, Yang Yan-ling, Chen Jing, Huang Yi-ning
Department of Neurology, First Hospital, Peking University, Beijing 100034, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Aug;28(4):374-8. doi: 10.3760/cma.j.issn.1003-9406.2011.04.003.
To investigate the mutations of glutaryl-CoA dehydrogenase (GCDH) gene in patients with glutaric aciduria type I(GA-1).
Genomic DNA was extracted from peripheral blood cells of the eight probands with GA-1 who were diagnosed by urine and blood analyses. By PCR and direct sequencing, all 11 exons and their flanking sequences of the GCDH gene were examined. Mutation search was also performed in some of their family members.
Among the eight patients diagnosed by metabolic screening, seven patients belonged to classical infantile-onset. One patient, however, was adult-onset, who was admitted to the hospital because of suffering from ischemic cerebral stroke. The GCDH gene mutations were identified in all the eight probands with GA-1: five of them had compound heterozygous mutations, while the other three harbored only one heterozygous mutation. Totally, nine different mutations of the GCDH gene were identified in the eight probands, four of them were novel, i.e., c.148T>C, c.371G>A, 909delC and c.263G>A.
GCDH gene mutations are identified in 8 patients with GA-1 in mainland China, including one adult patient with late onset. Four novel mutations of GCDH gene are found which expanded the mutational spectrum of the GCDH gene.
研究I型戊二酸血症（GA-1）患者戊二酰辅酶A脱氢酶（GCDH）基因的突变情况。
从8例经尿液和血液分析确诊为GA-1的先证者外周血细胞中提取基因组DNA。通过聚合酶链反应（PCR）和直接测序，检测GCDH基因的全部11个外显子及其侧翼序列。同时也对部分家庭成员进行了突变筛查。
在8例经代谢筛查确诊的患者中，7例为典型婴儿型起病。然而，有1例为成人起病，因缺血性脑卒中来院就诊。8例GA-1先证者均检测到GCDH基因突变：其中5例为复合杂合突变，另外3例仅携带1个杂合突变。8例先证者共检测到9种不同的GCDH基因突变，其中4种为新突变，即c.148T>C、c.371G>A、909delC和c.263G>A。
在中国内地8例GA-1患者中检测到GCDH基因突变，其中包括1例成人迟发型患者。发现了4种GCDH基因新突变，扩大了GCDH基因的突变谱。
