[The inherited coagulation factor XI deficiency caused by intronic mutation IVS J-4delgttg].
OBJECTIVE
To identify gene defect in a Chinese pedigree of hereditary coagulation factor XI (FXI) deficiency.


METHODS
The peripheral blood samples were collected from the proband and her family members. The plasma PT, APTT, FXI:C and FXI:Ag were assayed. The FXI gene exons and exon-intron boundaries of the proband were amplified by PCR and then sequenced directly. The mRNA of FXI in the peripheral blood was analyzed with RT-PCR.


RESULTS
The proband and some of her family members had prolonged APTT. The plasma FXI:C and FXI:Ag of the proband, her brother and her parents were lower than 10% and 50% of the normal values, respectively. Nucleotide sequence analysis revealed that the proband and her brother had a homozygous mutation of IVS J-4delgttg in FXI gene. The mutation was inherited from her parents who were heterozygotes. The mutation was not found in 60 normal subjects. No FXI mRNA was detected in peripheral blood sample of the proband.


CONCLUSIONS
The IVS J-4delgttg is a novel mutation causing FXI deficiency, which may interfere with mRNA splicing.
Xie
Shuang
S
Shanghai Institute of Hematology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
Wang
Hong-Li
HL
Wang
Xue-Feng
XF
Wu
Wen-Man
WM
Zhou
Rong-Fu
RF
Wang
Wen-Bin
WB
Hu
Yi-Qun
YQ
Wang
Zhen-Yi
ZY
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005172:Factor XI / Q000235:genetics*; D005173:Factor XI Deficiency / Q000097:blood / Q000235:genetics* / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008969:Molecular Sequence Data; D010314:Partial Thromboplastin Time; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011517:Prothrombin Time; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion
D012333:RNA, Messenger; D005172:Factor XI