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Mutation analysis of the GLUD1 gene in patients with glutamate dehydrogenase congenital hyperinsulinism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 493-496, 2010.
Article in Chinese | WPRIM | ID: wpr-234375
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the glutamate dehydrogenase 1 (GLUD1) gene mutation of three patients diagnosed as glutamate dehydrogenase congenital hyperinsulinism (GDH-HI).</p><p><b>METHODS</b>Three patients diagnosed as GDH-HI and their parents were involved in the study. PCR-DNA direct sequencing was used to analyze the exons 6,7,10,11 and 12 of the GLUD1 gene.</p><p><b>RESULTS</b>In the first case, an R269H heterozygous mutation was found in the GLUD1 gene, with autosomal dominant inheritance. In the second case, there was a de novo S445L heterozygous mutation of the GLUD1 gene. No mutation was detected in the third case.</p><p><b>CONCLUSION</b>In Chinese, R269H, S445L heterozygous mutation of the GLUD1 gene can lead to GDH-HI. Genetic analysis is necessary in making genetic diagnosis of congenital hyperinsulinsm.</p>
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: DNA Mutational Analysis / Molecular Sequence Data / Base Sequence / China / Exons / Glutamate Dehydrogenase (NADP/) / Mutation, Missense / Congenital Hyperinsulinism / Asian People / Genetics Limits: Adult / Female / Humans / Infant / Male Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2010 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: DNA Mutational Analysis / Molecular Sequence Data / Base Sequence / China / Exons / Glutamate Dehydrogenase (NADP/) / Mutation, Missense / Congenital Hyperinsulinism / Asian People / Genetics Limits: Adult / Female / Humans / Infant / Male Country/Region as subject: Asia Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2010 Type: Article