THE GENETIC ANALYSIS OF TWO PATIENTS WITH CONGENITAL COAGULATION FACTOR XI DEFICIENCY
(Abstract release date: 05/19/16)
EHA Library. Zhou R. 06/09/16; 134649; PB1749
Prof. Dr. Rongfu Zhou
Contributions
Contributions
Abstract
Abstract: PB1749
Type: Publication Only
Background
Factor-XI deficiency (FXID) is a rare inherited autosomal recessive disord.
Aims
To analyze genetic mutation and explore its molecular pathogenesis for two patients with congenital coagulation factor XI deficiency
Methods
Two patients were found to have prolonged activated partial thrombin time (aPTT), then their activity of coagulant factors were tested and aPTT mixing test with incubation were performed. Low activity of the FXI （FXI：C）was found in both. Two patients’ blood was collected, and their DNA was extracted. Polymerase Chain Reaction (PCR) was used to amplify all exons and exon-intron boundaries, and then the products of PCR were sequenced directjy. The mutation was determined through alignment of the normal FXI genomic DNA sequence by software chromas. The segment with mutation was sequenced backward.
Results
aPTT and FXI:C was 109.6s and 0.4% for patient 1 and 50.1s and 6.7% for patient 2,respectively.The results of aPTT mixing correction test and activities of other coagulant factors were all in normal range for both patients. The results of sequencing showed that a de novel homogenous nucleotide 18A deletion (18delA) mutation in exon2 was detected in patient1, leading frame shift mutation（Val-13TrpfsX15），and that combined heterogenous mutation, a nucleotide 738G>A transition in exon7 and a nucleotide 1021G>A transition in exon9, resulting a Trp228stop substitution and a Glu323Lys substitution,respectively, were detected in patient 2.
Conclusion
These mutations might be the molecular pathogenesis for two patients with congenital coagulation factor XI deficiency，respectively.
Session topic: E-poster
Keyword(s): Factor Xia, Inherited disease, Mutation
Type: Publication Only
Background
Factor-XI deficiency (FXID) is a rare inherited autosomal recessive disord.
Aims
To analyze genetic mutation and explore its molecular pathogenesis for two patients with congenital coagulation factor XI deficiency
Methods
Two patients were found to have prolonged activated partial thrombin time (aPTT), then their activity of coagulant factors were tested and aPTT mixing test with incubation were performed. Low activity of the FXI （FXI：C）was found in both. Two patients’ blood was collected, and their DNA was extracted. Polymerase Chain Reaction (PCR) was used to amplify all exons and exon-intron boundaries, and then the products of PCR were sequenced directjy. The mutation was determined through alignment of the normal FXI genomic DNA sequence by software chromas. The segment with mutation was sequenced backward.
Results
aPTT and FXI:C was 109.6s and 0.4% for patient 1 and 50.1s and 6.7% for patient 2,respectively.The results of aPTT mixing correction test and activities of other coagulant factors were all in normal range for both patients. The results of sequencing showed that a de novel homogenous nucleotide 18A deletion (18delA) mutation in exon2 was detected in patient1, leading frame shift mutation（Val-13TrpfsX15），and that combined heterogenous mutation, a nucleotide 738G>A transition in exon7 and a nucleotide 1021G>A transition in exon9, resulting a Trp228stop substitution and a Glu323Lys substitution,respectively, were detected in patient 2.
Conclusion
These mutations might be the molecular pathogenesis for two patients with congenital coagulation factor XI deficiency，respectively.
Session topic: E-poster
Keyword(s): Factor Xia, Inherited disease, Mutation
Abstract: PB1749
Type: Publication Only
Background
Factor-XI deficiency (FXID) is a rare inherited autosomal recessive disord.
Aims
To analyze genetic mutation and explore its molecular pathogenesis for two patients with congenital coagulation factor XI deficiency
Methods
Two patients were found to have prolonged activated partial thrombin time (aPTT), then their activity of coagulant factors were tested and aPTT mixing test with incubation were performed. Low activity of the FXI （FXI：C）was found in both. Two patients’ blood was collected, and their DNA was extracted. Polymerase Chain Reaction (PCR) was used to amplify all exons and exon-intron boundaries, and then the products of PCR were sequenced directjy. The mutation was determined through alignment of the normal FXI genomic DNA sequence by software chromas. The segment with mutation was sequenced backward.
Results
aPTT and FXI:C was 109.6s and 0.4% for patient 1 and 50.1s and 6.7% for patient 2,respectively.The results of aPTT mixing correction test and activities of other coagulant factors were all in normal range for both patients. The results of sequencing showed that a de novel homogenous nucleotide 18A deletion (18delA) mutation in exon2 was detected in patient1, leading frame shift mutation（Val-13TrpfsX15），and that combined heterogenous mutation, a nucleotide 738G>A transition in exon7 and a nucleotide 1021G>A transition in exon9, resulting a Trp228stop substitution and a Glu323Lys substitution,respectively, were detected in patient 2.
Conclusion
These mutations might be the molecular pathogenesis for two patients with congenital coagulation factor XI deficiency，respectively.
Session topic: E-poster
Keyword(s): Factor Xia, Inherited disease, Mutation
Type: Publication Only
Background
Factor-XI deficiency (FXID) is a rare inherited autosomal recessive disord.
Aims
To analyze genetic mutation and explore its molecular pathogenesis for two patients with congenital coagulation factor XI deficiency
Methods
Two patients were found to have prolonged activated partial thrombin time (aPTT), then their activity of coagulant factors were tested and aPTT mixing test with incubation were performed. Low activity of the FXI （FXI：C）was found in both. Two patients’ blood was collected, and their DNA was extracted. Polymerase Chain Reaction (PCR) was used to amplify all exons and exon-intron boundaries, and then the products of PCR were sequenced directjy. The mutation was determined through alignment of the normal FXI genomic DNA sequence by software chromas. The segment with mutation was sequenced backward.
Results
aPTT and FXI:C was 109.6s and 0.4% for patient 1 and 50.1s and 6.7% for patient 2,respectively.The results of aPTT mixing correction test and activities of other coagulant factors were all in normal range for both patients. The results of sequencing showed that a de novel homogenous nucleotide 18A deletion (18delA) mutation in exon2 was detected in patient1, leading frame shift mutation（Val-13TrpfsX15），and that combined heterogenous mutation, a nucleotide 738G>A transition in exon7 and a nucleotide 1021G>A transition in exon9, resulting a Trp228stop substitution and a Glu323Lys substitution,respectively, were detected in patient 2.
Conclusion
These mutations might be the molecular pathogenesis for two patients with congenital coagulation factor XI deficiency，respectively.
Session topic: E-poster
Keyword(s): Factor Xia, Inherited disease, Mutation
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