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1.
Journal of Experimental Hematology ; (6): 1262-1265, 2021.
Artículo en Chino | WPRIM | ID: wpr-888549

RESUMEN

OBJECTIVE@#To explore the differences between hematological phenotypes of patients with different genotypes in gene mutations and deletion α- thalassemia.@*METHODS@#By screening the α- thalassemia gene test results in the First Affiliated Hospital, Sun Yat-Sen University from January 2015 to April 2020, the patients with mutation and deletion α- thalassemia were obtained, then the differences between hematological phenotypes of patients with different genotypes were analyzed.@*RESULTS@#There were 96 patients with mutation combined with deletion α- thalassemia from the results of 24 054 α- thalassemia patients screened out, including 79 patients with non-deletion Hb H disease (α@*CONCLUSION@#The hematological phenotype changes caused by α


Asunto(s)
Humanos , Genotipo , Mutación , Fenotipo , Estudios Retrospectivos , Talasemia alfa/genética
2.
Chinese Journal of Medical Genetics ; (6): 43-45, 2003.
Artículo en Chino | WPRIM | ID: wpr-248504

RESUMEN

<p><b>OBJECTIVE</b>To elucidate the molecular mechanism of X-linked adrenoleukodystrophy(ALD) in Chinese.</p><p><b>METHODS</b>Polymerase chain reaction in exon 1, exon 5 and their flanking sequences and direct DNA sequencing of ALD gene were performed in four patients, their mothers and twenty normal individuals as controls.</p><p><b>RESULTS</b>A splice mutation was identified in the interface of exon 5 and intron 5 (1875 G-->A). This splice mutation in 5' end of intron 5 might lead to abnormal splice in exon 5 and exon 6 and bring about unstable and abnormal ALD protein; the lignoceryl CoA ligase could not transport very long chain fatty acids (VLCFA) into peroxisome and could not function normally; consequently, defective beta-oxidation of VLCFA in peroxisome could result in an accumulation of VLCFAS in the central nervous system, adrenal gland and blood.</p><p><b>CONCLUSION</b>The splice mutation in 5' end of intron 5 leading to abnormal splice in exon 5 and exon 6 appears to be one of the causes of X-linked recessive adrenoleukodystrophy.</p>


Asunto(s)
Niño , Preescolar , Femenino , Humanos , Masculino , Miembro 1 de la Subfamilia D de Transportador de Casetes de Unión al ATP , Transportadoras de Casetes de Unión a ATP , Genética , Adrenoleucodistrofia , Genética , Patología , Empalme Alternativo , Genética , Secuencia de Bases , ADN , Química , Genética , Análisis Mutacional de ADN , Exones , Genética , Salud de la Familia , Intrones , Genética , Datos de Secuencia Molecular , Mutación
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