Your browser doesn't support javascript.
loading
Identification of two novel mutations of human blood coagulation factor V gene in a Chinese family with congenital factor V deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 515-518, 2006.
Artigo em Chinês | WPRIM | ID: wpr-285088
ABSTRACT
<p><b>OBJECTIVE</b>To discover the mutations of human blood coagulation factor V (FV) gene in a Chinese family with congenital factor V deficiency, and to explore the molecular mechanism associated with the congenital factor V deficiency.</p><p><b>METHODS</b>PCR and DNA sequencing were used to look for the FV gene mutations in the proband. And the novel mutation were testified by PCR restriction fragment length polymorphism technique or reverse DNA sequencing. One hundred healthy volunteers were chosen as controls at random.</p><p><b>RESULTS</b>Two novel mutations were discovered in the FV gene of proband, which were the A1763C missense mutation in exon 11 and the splicing site mutation in the 3' terminal of intron 16 (G-->T). The pedigree analysis showed that the two mutations inherited from his parents respectively the A1763C came from his father, and the G-->T from his mother. The A1763C missense mutation in exon 11 was not found in each of 100 healthy volunteers.</p><p><b>CONCLUSION</b>The congenital deficiency of FV in the proband might be caused by the A1763C missense mutation in exon 11 and the splicing site mutation in the 3' terminal of intron 16, which jointly caused the proband to be a double heterozygote.</p>
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Fator V / Análise Mutacional de DNA / Sequência de Bases / Íntrons / China / Reação em Cadeia da Polimerase / Éxons / Saúde da Família / Deficiência do Fator V Tipo de estudo: Estudo prognóstico Limite: Criança, pré-escolar / Feminino / Humanos / Masculino País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2006 Tipo de documento: Artigo

Similares

MEDLINE

...
LILACS

LIS

Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Fator V / Análise Mutacional de DNA / Sequência de Bases / Íntrons / China / Reação em Cadeia da Polimerase / Éxons / Saúde da Família / Deficiência do Fator V Tipo de estudo: Estudo prognóstico Limite: Criança, pré-escolar / Feminino / Humanos / Masculino País/Região como assunto: Ásia Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2006 Tipo de documento: Artigo