FXI gene mutations in two pedigrees of congenital clotting factor XI deficiency / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 132-135, 2004.
Article
in Chinese
| WPRIM
| ID: wpr-291433
ABSTRACT
<p><b>OBJECTIVES</b>To identify the FXI gene mutations in two Chinese pedigrees of congenital factor XI deficiency.</p><p><b>METHODS</b>The peripheral blood samples were collected from the probands and their family members and the plasma FXIC and FXIAg were determined. All the exons and exon-intron boundries of FXI gene were amplified with PCR and sequenced thereafter.</p><p><b>RESULTS</b>A nonsense mutation Trp228stop and two missense mutations Glu323Lys and Leu172Pro were disclosed in the two pedigrees. All mutations existed in a heterozygous state.</p><p><b>CONCLUSION</b>The FXI gene mutations Trp228stop, Glu323Lys and Leu172Pro attribute to the pathogenesis of the congenital factor XI deficiency in Chinese. The Leu172Pro is identified for the first time.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Factor XI
/
Molecular Sequence Data
/
Base Sequence
/
Asian People
/
Factor XI Deficiency
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Child
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2004
Type:
Article
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