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Analysis of a hereditary protein C deficient consanguineous pedigree caused by Phe139Val homozygous mutation / 中华血液学杂志
Chinese Journal of Hematology ; (12): 767-770, 2013.
Artículo en Chino | WPRIM | ID: wpr-272117
ABSTRACT
<p><b>OBJECTIVE</b>To analyze genetic mutation and explore its molecular pathogenesis for an hereditary protein C (PC) deficient consanguineous pedigree.</p><p><b>METHODS</b>The pedigree included three generations and contained eight members. PC activity (PCA), PC antigen (PCAg) and other coagulant parameters were detected for all family members. Protein C gene (PROC) include all the exons and intron exon boundaries were amplified by PCR for the proband, then analyzed by direct sequencing. Mutation sites were detected for the other family members.</p><p><b>RESULTS</b>The PCA and PCAg in the proband plasma were 20% (normal range 70% -140%) and 13.2% (normal range 70%-130%). A homozygous missense mutation g.6128T>G in exon 7 resulting in Phe139Val was identified in the proband. The PCA and PCAg in her younger brother were 31% and 18.90%, Phe139Val homozygous was also found. The left family members were heterozygous for Phe139Val.</p><p><b>CONCLUSION</b>Phe139Val homozygous missense mutation in exon 7 of PROC caused serious hereditary protein C deficiency. We speculated that homozygous mutation might be resulted from this consanguineous marriage.</p>
Asunto(s)
Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Proteína C / Consanguinidad / Deficiencia de Proteína C / Genética / Homocigoto / Mutación Límite: Adulto / Anciano / Femenino / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Hematology Año: 2013 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Linaje / Proteína C / Consanguinidad / Deficiencia de Proteína C / Genética / Homocigoto / Mutación Límite: Adulto / Anciano / Femenino / Humanos / Masculino Idioma: Chino Revista: Chinese Journal of Hematology Año: 2013 Tipo del documento: Artículo