Identification of two novel factor XI non-sense mutation Trp228stop and Trp383stop in a Chinese pedigree of congenital factor XI deficiency / 中华血液学杂志
Chinese Journal of Hematology
; (12): 126-128, 2003.
Article
in Zh
| WPRIM
| ID: wpr-354904
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To identify the factor XI gene mutation in a Chinese pedigree of congenital factor XI deficiency.</p><p><b>METHODS</b>The peripheral blood samples were collected from the proband and her family members and the plasma FXIC and FXIAg were assayed. All the exons and their adjacent intron sequences of factor XI were amplified with PCR and sequenced thereafter.</p><p><b>RESULTS</b>Two novel nonsense mutations TGG-->TGA (Trp228stop) and TGG-->TAG (Trp383stop) were identified in the family.</p><p><b>CONCLUSION</b>The compound heterozygous Trp228stop and Trp383stop may attribute to the pathogenesis of the congenital factor deficiency.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Factor XI
/
Polymerase Chain Reaction
/
Sequence Analysis, DNA
/
Codon, Nonsense
/
Asian People
/
Factor XI Deficiency
/
Genetics
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Hematology
Year:
2003
Type:
Article