[Identification of Arg77Cys and Arg174stop double heterozygous mutation in a Chinese family with inherited FXIII deficiency].
OBJECTIVE
To identify the gene mutation type of an inherited coagulation factor XIII (FXIII) deficiency pedigree.


METHODS
PCR and DNA sequencing were used to identify the mutations in the 15 exons and the flank sequence of FXIII gene in the proband. The identified mutations were validated by allele specific PCR, PCR restriction fragment length polymorphism technique or DNA sequencing in the family members and 100 healthy volunteers.


RESULTS
Arg77Cys and Argl74stop double heterozygous mutations were discovered in the proband. The pedigree analysis showed that Arg77Cys missense mutation inherited from her father, and Arg174stop from her mother. The Arg77Cys missense mutation in exon 3 was not found in her husband and the other 100 healthy volunteers.


CONCLUSIONS
A novel Arg174stop nonsense mutation was discovered in human FXIII gene. A simple DNA assay based on PCR for detection of this mutation was developed. The congenital FXIII deficiency in the proband might be caused by the coinheritance of the Arg77Cys missense mutation in exon 3 and the Arg174stop nonsense mutation in exon 4.
Zheng
Wei-Dong
WD
Department of Pathology and Laboratory Medicine, Guangdong Provincial People's Hospital, Guangzhou 510080, China.
Liu
Yan-Hui
YH
He
Qi-Yong
QY
Chen
Zhi-Hong
ZH
Fan
Xiao-Bin
XB
Liu
Hui-Fang
HF
D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005091:Exons; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
D005176:Factor XIII