摘要
目的探讨5例戊二酸血症I型（glutaric acidemiatype I，GA—I）患者的GCDH基因突变情况，为临床诊治提供参考依据。方法应用Sanger测序法对泉州地区5例GA—I患者GcDH基因的所有外显子及侧翼内含子进行测序，并对测得序列进行分析，以寻找可能的致病突变位点。结果5例患者均检测到GCDH基因突变，共检测到4种突变位点，包括2种错义突变[c．532G〉A（P．G178R）、C．533G〉A（P．G178E）]和2种移码突变Ee．106—107delAC（P．Q37fs＊5）、C．1244—2A〉c]。其中，c．1244—2A〉C突变频率最高～C106—107delAC为未见报道的新突变，MutationTaster软件预测其为致病性突变。结论本研究分析了5例戊二酸血症I型患者的GCDH基因突变情况，从基因水平上证实了临床诊断，发现1个新的GCDH基因突变位点，丰富了GCDH基因的突变谱。
Objective To detect potential mutations of GCDH gene in five patients with glutaric acidemia type I （GA- I ）. Methods Genomic DNA was extracted from peripheral blood samples from the patients. The 11 exons and their flanking sequences of the GCDH gene were amplified with PCR and subjected to direct sequencing. Results Four mutations of the GCDH gene were identified among the patients, which included c. 532G〉A （p. G178R）, c. 533G〉A （p. G178E）, c. 106_107delAC （p. Q37fs＊ 5） and c. 1244-2A〉C. Among these, c. 1244-2A〉C was the most common, while c. 106_107delAC was a novel mutation, which was predicted to be pathogenic by MutationTaster software. Conclusion The diagnosis of GA-I has been confirmed in all of the five patients. Identification of the novel GCDH mutations has enriched the mutational spectrum of the GCDH gene.
出处
《中华医学遗传学杂志》
CAS
CSCD
2018年第1期39-42,共4页
Chinese Journal of Medical Genetics
