[Application study on inversion diagnosis of F8 gene in hemophilia A].
OBJECTIVE
To establish an effective method of genetic diagnosis on hemophilia A (HA) by detecting the inversion mutation in intron 22 of F8 gene.


METHODS
Intron 22 inversion mutation in F8 gene was detected by using long distance-polymerase chain reaction (LD-PCR) and inversion-PCR (I-PCR) in 31 HA patients. The mothers of HA patients with intron 22 inversion mutation were selected to carrier diagnosis and amniotic fluid of the pregnant women with inversion mutation was collected at intermediate stage of gestation, and used to prenatal genetic diagnosis.


RESULTS
Seven patients showed F8 gene inversion mutation in thirty-one patients. Three in four mothers of HA patients with intron 22 inversion mutation were diagnosed as carriers. The prenatal diagnosis result indicated that the fetus conceived in the HA-carrier woman was normal individual.


CONCLUSIONS
The detection of intron 22 inversion mutation by LD-PCR and I-PCR is time-saving, and can be used in prenatal diagnosis on HA.
Qi
Ling-yan
LY
Department of Medical Genetics, China Medical University, Shenyang, Liaoning, 110001 P. R. China.
Jin
Chun-lian
CL
Lin
Chang-kun
CK
Ren
Mei-hong
MH
Dong
Wen-han
WH
Sun
Kai-lai
KL
D005169:Factor VIII / Q000235:genetics*; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D005169:Factor VIII