Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FVIII gene.
- Author:
Chang-gao ZHONG
1
;
Lu-yun LI
;
Guang-xiu LU
Author Information
- Publication Type:Journal Article
- MeSH: Chromosomes, Human, X; genetics; Dinucleotide Repeats; genetics; Factor VIII; genetics; Family Health; Female; Hemophilia A; diagnosis; genetics; Humans; Male; Minisatellite Repeats; genetics; Pedigree; Polymorphism, Genetic; Pregnancy; Prenatal Diagnosis; methods; Reproducibility of Results; Sensitivity and Specificity
- From: Chinese Journal of Medical Genetics 2004;21(1):80-82
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo improve the accuracy and the diagnostic rate of gene diagnosis and prenatal gene diagnosis for hemophilia A (HA) families.
METHODSLinkage analysis was performed by using St14(DXS52) VNTR polymorphism and intron 13 (CA)n repeat polymorphism of the factor VIII gene among HA families for indirect diagnosis.
RESULTSThe diagnostic rates using linkage analysis based upon one of the above mentioned two polymorphic loci among 9 HA families were 66.7% and 66.7%, respectively. The diagnostic rate rose to 88.9% by using a combination of the two polymorphic loci. Prenatal gene diagnoses were performed for 4 HA families. A wrong prenatal diagnosis which may happen when linkage analysis was performed by using only St14 VNTR was monitored.
CONCLUSIONThe rapid and accurate gene diagnosis and prenatal gene diagnosis could be performed by a combination of the two polymorphic loci for about 90% HA families.
