Pathogenetic mechanism for a female patient with hemophilia A.
- VernacularTitle:一例女性血友病A患者发病机制的探讨
- Author:
Jiadi CHEN
1
;
Yanfang LIN
;
Xiaolan LIN
;
Wanzi CHEN
;
Qiang FU
;
Huifang HUANG
Author Information
- Publication Type:Case Reports
- MeSH: Adolescent; Female; Hemophilia A; etiology; genetics; Humans; Karyotyping; Polymerase Chain Reaction; Receptors, Androgen; analysis; X Chromosome Inactivation
- From: Chinese Journal of Medical Genetics 2016;33(3):344-348
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the pathogenetic mechanism for a female patient affected with hemophilia A (HA).
METHODSPotential genetic defect was detected with inverse shifting-polymerase chain reaction (IS-PCR). The pattern of X chromosome inactivation was determined with a human androgen receptor assay (HUMARA assay). G-banded karyotyping was carried out to exclude potential chromosome aberrations.
RESULTSIS-PCR showed that the defect of FVIII gene was the distal type of intron 22 inversion. The HUMARA assay showed that the X chromosome inactivation was non-random, and that the mother's X chromosome activity was lower than that of the father's X chromosome which has carried the inverted FVIII gene. No abnormalities were found with G-banded chromosomes.
CONCLUSIONThe prevalence of female HA patient may be caused by non-random inactivation of X chromosomes.
