Improvement of I-PCR and its application in gene diagnosis of hemophilia A / 中华血液学杂志
Chinese Journal of Hematology
;
(12): 318-320, 2009.
Article
in Chinese
| WPRIM
| ID: wpr-314484
ABSTRACT
<p><b>OBJECTIVE</b>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).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The modified I-PCR enables the gene diagnosis and prenatal diagnosis of FVIII intron 22 inversion more accurately and rapidly.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Factor VIII
/
Polymerase Chain Reaction
/
Diagnosis
/
Genetics
/
Hemophilia A
/
Chromosome Inversion
/
Methods
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Pregnancy
Language:
Chinese
Journal:
Chinese Journal of Hematology
Year:
2009
Type:
Article
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