Detection and genetic counseling of F8 gene inversions for patients with severe hemophilia A / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 508-510, 2016.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-247646
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>Inversions of intron 1 (Inv1) or intron 22 (Inv22) of the coagulation factor VIII gene (F8) may be found in 40%-50% of patients with severe hemophilia A. Such inversions cannot be detected by conventional sequencing. Due to homologous recombination, family-based linkage analysis may yield false positive or false negative results. In this study, Inverse-shifting PCR (IS-PCR) was used to detect potential inversions in two families affected with hemophilia A.</p><p><b>METHODS</b>Peripheral venous blood, fetal amniotic fluid and fetal chorionic cells were harvested for genome DNA extraction. IS-PCR was used to detect Inv1 or Inv22 detection or its subtypes.</p><p><b>RESULTS</b>IS-PCR has accurately detected Inv22 and Inv1 in both families and verified the subtypes of Inv22.</p><p><b>CONCLUSION</b>Carriers of Inv22 or Inv1 may be precisely detected with IS-PCR. The results have provided valuable information for genetic counseling and prenatal diagnosis for the affected families.</p>
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Factor VIII
/
Introns
/
Diagnosis
/
Genetic Counseling
/
Genetics
/
Hemophilia A
/
Chromosome Inversion
Type of study:
Diagnostic study
Limits:
Child
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Document type:
Article