Pathogenetic mechanism for a female patient with hemophilia A / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To explore the pathogenetic mechanism for a female patient affected with hemophilia A (HA).</p><p><b>METHODS</b>Potential 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.</p><p><b>RESULTS</b>IS-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.</p><p><b>CONCLUSION</b>The prevalence of female HA patient may be caused by non-random inactivation of X chromosomes.</p>