Association of genetic polymorphisms in methionine metabolism genes with X-linked adrenoleukodystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 279-282, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-326947
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the association of the polymorphisms of methionine metabolism genes and the phenotype of X-linked adrenoleukodystrophy (X-ALD) and clinical severity.</p><p><b>METHODS</b>The clinical information of 120 X-ALD patients were analyzed and three genetic variants involved in the methionine metabolism, including cystathionine beta-synthase (CBS) c.844_855ins68, 5-methyltetrahydrofolate-homocysteine-S-methyltransferase (MTR) c.2756A to G, and transcobalamin 2 (TC2) c.776 C to G were analyzed by polymerase chain reaction and sequencing. The association between these polymorphisms and phenotype of X-ALD was studied.</p><p><b>RESULTS</b>The frequency of GG genotype of the TC2 c.776 C/G was higher in patients with central nervous system(CNS) demyelination than in controls (P= 0.012). However, the other two polymorphisms did not show any significant associations with the phenotypes.</p><p><b>CONCLUSION</b>The GG genotype of TC2 c.776 C/G may contribute to X-ALD phenotype.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Polimorfismo Genético
/
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase
/
Transcobalaminas
/
Adrenoleucodistrofia
/
Cistationina beta-Sintase
/
Frequência do Gene
/
Genética
/
Genótipo
/
Metabolismo
Limite:
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2011
Tipo de documento:
Artigo
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