Detection of factor VIII intron 1 inversion in severe haemophilia A.
- Author:
Yan LIANG
1
;
Zhen-yu YAN
;
Mei YAN
;
Bao-lai HUA
;
Bai XIAO
;
Yong-qiang ZHAO
;
Jing-zhong LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Chromosome Inversion; genetics; DNA Mutational Analysis; Factor VIII; genetics; Female; Hemophilia A; diagnosis; genetics; Humans; Introns; genetics; Male; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2009;26(3):323-325
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEScreening 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.
METHODSUsing 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.
RESULTSOne 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.
CONCLUSIONIntron 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.
