IDENTIFICATION OF MUTATIONS IN MUT GENE OF A PATIENT WITH METHYLMALONIC ACIDURIA
Download as PDFVolume 1, Issue 2, Pp 15-18, 2018
Author(s)
Hui Tang1,3*, Hu Hao2*, Qing-Bin Zha1, Yi-Hui Deng1, Jia Tang3, Ma-Xue Feng1, Qiang Chen3§
Affiliation(s)
1 The First Affiliated Hospital of Jinan University, Guangzhou 510632, China
2 The Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou 510655, China
3 Jiangmen Maternity and Child Health Care Hospital, Huizhou 52900, China
Corresponding Author
Qiang Chen
ABSTRACT
Objective To identify and analyze the mutation of MUT gene in a patient with methylmalonic aciduria. Methods A patient with methylmalonic aciduria was examined. Genomic DNA was amplified by PCR. The PCR products of MUT gene were analyzed by sequencing. The three-dimensional structure of human methylmalonyl-CoA model was deduced. Results Four mutations carried by the mother including c.636G>A, c.1106G>A, c.1595G>C and c.2011A>G at exon 3, exon 6, exon 9, and exon 12, respectively were detected. The mutation of IVS3+1 del G ins TGGTTATTA from the father in intron 3–4 resulted in premature translation termination. Conclusions c.1106G>A, c.1595G>C and IVS3+1 del G ins TGGTTATTA mutations of MUT gene are novel mutations which have never been reported.
KEYWORDS
Methylmalonic Aciduria; MUT Gene; Gene Mutation
CITE THIS PAPER
Hui Tang, Hu Hao, Qing-Bin Zha, Yi-Hui Deng, Jia Tang, Ma-Xue Feng, Qiang Chen. Identification of mutations in mut gene of a patient with methylmalonic aciduria. Acta Translational Medicine. 2018, 1(2): 15-18.
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