Identification of a novel large deletion of factor subunit A mRNA associated with hereditary factor deficiency.
- Author:
Qiu-ling MA
1
;
Ke-yuan ZHOU
;
Peng ZHOU
;
Wang-wei CAI
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; DNA Mutational Analysis; Exons; Factor XIII; genetics; Factor XIII Deficiency; genetics; Female; Humans; Male; Pedigree; RNA, Messenger; genetics; Sequence Deletion
- From: Chinese Journal of Hematology 2012;33(4):299-302
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze the expressed mRNA of the factor subunit A (FA) in monocyte in a hereditary factor (F) deficiency family.
METHODSThe 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.
CONCLUSIONDelCD11-279 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.
