[Improvement of I-PCR and its application in gene diagnosis of hemophilia A].
OBJECTIVE
To improve inversion-polymerase chain reaction (I-PCR) in detection of factor VIII (FVIII) intron 22 inversion for gene diagnosis and prenatal diagnosis of hemophilia A (HA).


METHODS
The modified I-PCR was applied to detect FVIII intron 22 inversion in 8 families with HA. The prenatal diagnosis was performed for 2 pregnant women in the families. The fetal blood samples were obtained by cordocentesis at 22 and 26 weeks gestation respectively.


RESULTS
Four of 8 HA families were diagnosed to be FVIII intron 22 inversion. Two fetuses were identified to be normal and one of them was born normal.


CONCLUSIONS
The modified I-PCR enables the gene diagnosis and prenatal diagnosis of FVIII intron 22 inversion more accurately and rapidly.
Department of Medical Genetics, Medical School, Sun Yat-Sen University, Guangzhou 510080, China.
Shu-fen
SF
Chen
Wei-ying
WY
Jiang
D007446:Chromosome Inversion; D005169:Factor VIII / Q000235:genetics; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis
D005169:Factor VIII