Intron 1 and 22 inversions in factor VIII gene in patients with haemophilia A.
- Author:
Tan LI
1
;
Jing DAI
;
Jing-Sheng WU
;
Qiu-Lan DING
;
Kai-Yang DING
;
Chang-Cheng ZHENG
;
Ping SUN
;
Xue-Feng WANG
Author Information
- Publication Type:Journal Article
- MeSH: Chromosome Inversion; Chromosomes, Human, X; Factor VIII; genetics; Female; Hemophilia A; genetics; Humans; Introns; Male
- From: Chinese Journal of Hematology 2009;30(3):150-153
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze intron 1 and 22 inversions in factor VIII (FVIII) gene in hemophilia A (HA) patients and and their families and to investigate the correlation between intron inversion and FVIII antibody.
METHODSAll patients were detected FVIII: C and FVIII antibody. In addition, 81 unrelated HA patients were directly detected by multiplex PCR and long-distance PCR for intron 1 and 22 inversions in FVIII gene. Pedigree investigation for some patients were conducted.
RESULTSIn 81 unrelated HA patients, 3 severe cases were found intron 1 inversion which accounted for 4.6% of total 65 severe cases. Of the 3 cases, one was FVIII antibody positive. Two female family members of a intron 1 inversion patient were identified as one carrier and one non-carrier. Twenty five of 65 (38.5%) severe cases were found intron 22 inversion. Of the 25 cases 1 was FVIII antibody positive. Nine female members in 5 HA families which had patients with intron 22 inversion were identified as 7 carries and 2 non-carriers.
CONCLUSIONBesides intron 22 inversion, intron 1 inversion was another important molecular defect in resulting in severe HA. Intron inversion analysis can also be used for deviation rectification of experiment grouping in HA patients. Intron 1 and 22 inversions may be one of the higher risk factors for resulting in FVIII antibodies.