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[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].
- Source :
-
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2013 Aug; Vol. 30 (4), pp. 389-93. - Publication Year :
- 2013
-
Abstract
- Objective: To detect potential mutation in ALDH5A1 gene for a family affected with succinic semialdehyde dehydrogenase deficiency diagnosed by clinical inspection and urine screening.<br />Methods: Polymerase chain reaction and direct DNA sequencing were carried out for the affected child and her parents. Suspected ALDH5A1 gene mutations were verified in 100 healthy controls to exclude polymorphisms.<br />Results: The child was found to have carried 2 heterozygous missense mutations in the coding region of ALDH5A1 gene, namely c.527G>A and c.691G>A, for which her mother and father were respectively heterozygotes. The same mutations were not detected in 100 healthy controls. The child was also found to have carried two previously described polymorphisms including a heterozygous c.545C>T(derived from her father) and a homozygous c.538C>T(derived from her mother).<br />Conclusion: Missense mutations of c.527G>A and c.691G>A in the ALDH5A1 gene are responsible for the pathogenesis of the disease in this family.
- Subjects :
- Adult
Amino Acid Metabolism, Inborn Errors ethnology
Amino Acid Sequence
Animals
Asian People ethnology
Base Sequence
Child, Preschool
China ethnology
Developmental Disabilities
Female
Heterozygote
Humans
Male
Molecular Sequence Data
Mutation, Missense
Pedigree
Polymorphism, Genetic
Succinate-Semialdehyde Dehydrogenase genetics
Amino Acid Metabolism, Inborn Errors enzymology
Amino Acid Metabolism, Inborn Errors genetics
Asian People genetics
Succinate-Semialdehyde Dehydrogenase deficiency
Subjects
Details
- Language :
- Chinese
- ISSN :
- 1003-9406
- Volume :
- 30
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 23926001
- Full Text :
- https://doi.org/10.3760/cma.j.issn.1003-9406.2013.04.002