[Intron 1 and 22 inversions in factor VIII gene in patients with haemophilia A].
OBJECTIVE
To 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.


METHODS
All 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.


RESULTS
In 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.


CONCLUSIONS
Besides 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.
Li
Tan
T
Department of Hematology, Anhui Provincial Hospital Affiliated to Anhui Medical University, Hefei 230001, China.
Dai
Jing
J
Wu
Jing-Sheng
JS
Ding
Qiu-Lan
QL
Ding
Kai-Yang
KY
Zheng
Chang-Cheng
CC
Sun
Ping
P
Wang
Xue-Feng
XF
D007446:Chromosome Inversion; D041321:Chromosomes, Human, X; D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male
D005169:Factor VIII