[Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FVIII gene].
OBJECTIVE
To improve the accuracy and the diagnostic rate of gene diagnosis and prenatal gene diagnosis for hemophilia A (HA) families.


METHODS
Linkage 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.


RESULTS
The 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.


CONCLUSIONS
The 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.
Zhong
Chang-gao
CG
Institute of Reproductive and Stem Cell Engineering, Central South University, Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, Hunan, PR China.
Li
Lu-yun
LY
Lu
Guang-xiu
GX
D041321:Chromosomes, Human, X / Q000235:genetics; D018900:Dinucleotide Repeats / Q000235:genetics*; D005169:Factor VIII / Q000235:genetics*; D005192:Family Health; D005260:Female; D006467:Hemophilia A / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity
D005169:Factor VIII