Diagnosis of hemophilia A by a combination of St14(DXS52) VNTR polymorphism and (CA)n repeat polymorphism within FVIII gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 80-82, 2004.
Article
in Zh
| WPRIM
| ID: wpr-329392
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To improve the accuracy and the diagnostic rate of gene diagnosis and prenatal gene diagnosis for hemophilia A (HA) families.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
Full text:
1
Index:
WPRIM
Main subject:
Pedigree
/
Polymorphism, Genetic
/
Prenatal Diagnosis
/
Factor VIII
/
Family Health
/
Reproducibility of Results
/
Sensitivity and Specificity
/
Minisatellite Repeats
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Dinucleotide Repeats
/
Chromosomes, Human, X
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
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Male
/
Pregnancy
Language:
Zh
Journal:
Chinese Journal of Medical Genetics
Year:
2004
Type:
Article