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 Zh
| WPRIM
| ID: wpr-291433
Responsible library:
WPRO
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 FXI:C and FXI:Ag 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:
1
Index:
WPRIM
Main subject:
Pedigree
/
Factor XI
/
Molecular Sequence Data
/
Base Sequence
/
Asian People
/
Factor XI Deficiency
/
Genetics
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adult
/
Child
/
Humans
/
Male
Language:
Zh
Journal:
Chinese Journal of Hematology
Year:
2004
Type:
Article