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[Analysis of MAT1A gene mutations in a child affected with simple hypermethioninemia].

摘要:

To detect potential mutations of MAT1A gene in a child suspected with simple hypermethioninemia by MS/MS neonatal screening.Clinical data of the child was collected. Genomic DNA was extracted by a standard method and subjected to targeted sequencing using an Ion AmpliseqTM Inherited Disease Panel. Detected mutations were verified by Sanger sequencing.The child showed no clinical features except evaluated methionine. A novel compound mutation of the MAT1A gene, i.e., c.345delA and c.529C>T, was identified in the child. His father and mother were found to be heterozygous for the c.345delA mutation and c.529C>T mutation, respectively.The compound mutation c.345delA and c.529C>T of the MAT1A gene probably underlie the disease in the child. The semi-conductor sequencing has provided an important means for the diagnosis of hereditary diseases.

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作者单位: Center of Genetic Medicine, Obstetrics and Gynecology Hospital Affiliated to Nanjing Medical University, Jiangsu, Nanjing 210004, China. jiangzhang784@163.com. [1]
期刊:
《Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics》 2017年34卷1期98-101页
DOI: 10.3760/cma.j.issn.1003-9406.2017.01.023
发布时间: 2018-10-18
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