[Detection of factor VIII intron 1 inversion in severe haemophilia A].
OBJECTIVE
Screening the intron 1 inversion of factor VIII (FVIII) in the population of severe haemophilia A(HA) in China and performing carrier detection and prenatal diagnosis.


METHODS
Using LD-PCR to detect intron 22 inversions and multiple-PCR within two tubes to intron 1 inversions in severe HA patients. Carrier detection and prenatal diagnosis were performed in affected families. Linkage analysis and DNA sequencing were used to verify these tests.


RESULTS
One hundred and eighteen patients were seven diagnosed as intron 22 inversions and 7 were intron 1 inversions out of 247 severe HA patients. The prevalence of the intron 1 inversion in Chinese severe haemophilia A patients was 2.8% (7/247). Six women from family A and 2 from family B were diagnosed as carriers. One fetus from family A was affected fetus.


CONCLUSIONS
Intron 1 inversion could be detected directly by multiple-PCR within two tubes. This method made the strategy more perfective in carrier and prenatal diagnosis of haemophilia A.
Liang
Yan
Y
Basic Medical Research Center, Beijing Chaoyang Hospital, Capital Medical University, Beijing, 100020 PR China.
Yan
Zhen-yu
ZY
Yan
Mei
M
Hua
Bao-lai
BL
Xiao
Bai
B
Zhao
Yong-qiang
YQ
Liu
Jing-zhong
JZ
D000328:Adult; D007446:Chromosome Inversion / Q000235:genetics*; D004252:DNA Mutational Analysis; D005169:Factor VIII / Q000235:genetics; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*
D005169:Factor VIII