Double heterozygous mutations of non-canonical splice (IVS1a + 5g > a) and His348Gln caused inherited coagulation factor VII deficiency / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 139-142, 2004.
Artigo
em Chinês
| WPRIM
| ID: wpr-291431
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the pathogenesis of inherited coagulation factor VII (FVII) deficiency.</p><p><b>METHODS</b>The diagnosis was validated by coagulant parameter assay. FVII gene mutations were analysed in the proband by DNA direct sequencing of PCR products of all exons, exon-intron boundaries and the 3', 5'untranslated sequences. The mutations were confirmed by reverse sequencing. The ectopic transcripts of RT-PCR were used to confirm the characteristics of the mutation in non-canonical splice site (IVS1a + 5g > a).</p><p><b>RESULTS</b>Double heterozygous mutations in the propositus were identified a T to G mutation at position 10961, resulting in His348Gln substitution, a non-canonical splice site (IVS1a + 5g > a) mutation, causing the new model of splice and frameshift mutation.</p><p><b>CONCLUSION</b>Double heterozygous mutations of His348Gln and IVS1a + 5g > a were identified in a propositus, the splicing pattern of the IVS1a + 5g > a mutation was reported for the first time.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fator VII
/
Dados de Sequência Molecular
/
Sequência de Bases
/
Splicing de RNA
/
Sequência de Aminoácidos
/
Mutação de Sentido Incorreto
/
Deficiência do Fator VII
/
Genética
/
Heterozigoto
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Hematology
Ano de publicação:
2004
Tipo de documento:
Artigo
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