- VernacularTitle:重型 A 型血友病患者的F8倒位检测
- Author:
Nan BAI
1
;
Qinghua WU
;
Ning LIU
;
Duo CHEN
;
Zhenhua ZHAO
;
Xiangdong KONG
Author Information
- Publication Type:Case Reports
- MeSH: Child; Chromosome Inversion; Factor VIII; genetics; Genetic Counseling; Hemophilia A; diagnosis; genetics; Humans; Introns; Male; Prenatal Diagnosis
- From: Chinese Journal of Medical Genetics 2016;33(4):508-510
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEInversions 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.
METHODSPeripheral 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.
RESULTSIS-PCR has accurately detected Inv22 and Inv1 in both families and verified the subtypes of Inv22.
CONCLUSIONCarriers 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.