[Identification of a novel large deletion of factor subunit A mRNA associated with hereditary factor deficiency].
OBJECTIVE
To analyze the expressed mRNA of the factor subunit A (FA) in monocyte in a hereditary factor (F) deficiency family.


METHODS
The F A mRNA of the proband and the other family members was analyzed by RT-PCR, semi-quantitative RT-PCR, cloning and sequencing. The three dimensional structure of the protein was predicted by SWISS-MODEL and viewed by RASMIOL.


RESULTS
(1) A large in frame deletion from codons 11 to 279, spanning from exon 2 to 7 of F A (DelCD11-279), was identified in the proband at mRNA level and a truncated protein is predicted composed of 464 amino acids. Compared with the normal and the other families, the proband showed lower level of F A mRNA in RT-PCR. (2) SWISS-MODEL analysis showed that the truncated protein lacked the β-sandwich and a part of catalytic core, resulting in loss of the normal catalytic domains.


CONCLUSIONS
DelCD11-279 of F A mRNA is associated with hereditary F deficiency. The reduced expressing level of F A gene is one of the causes resulting in F deficiency in the patients.
Department of Biochemistry and Molecular Biology, Hainan Medical College, Haikou, China.
Qiu-ling
QL
Ma
Ke-yuan
KY
Zhou
Peng
P
Zhou
Wang-wei
WW
Cai
D000293:Adolescent; D004252:DNA Mutational Analysis; D005091:Exons; D005176:Factor XIII / Q000235:genetics*; D005177:Factor XIII Deficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D012333:RNA, Messenger / Q000235:genetics*; D017384:Sequence Deletion
D012333:RNA, Messenger; D005176:Factor XIII