Study On Polymorphism Of HUMARA Gene In Chinese Women And Clonality Of AML Before And After Remission

The clonality of blood cells has been studied by analysis of X- linked DNA polymorphism and mythylation.HUMARA gene was recently used as a clonal marker with high polymorphism and stable mythylation pattern. AML is a clonal disease,but the clonality after remission is still contraversary,In order to analyse the clonality of haematopoiesis in AML before- and after remission,we studied the HUMARA gene polymorphism and the clonality of 30 previously untreated AML,15 AML in complete remission and 20 female controls.The results are as follows:1.There were 44 heterozygotes for HUMARA gene in 50 Chinese females including 30 AML patients and 20 female controls,the heterozegote rate was88%.2.Seventeen heterozygotes were revealed in 20 female controls, two heterozygotes(11.6%)were skewed X-inactivation,the skewed ratio was 1:4. 8 and 1:5.8 respectively.3.There were 27 heterozygotes in 30 previously untreated AMI, pati ents .All heterozygote patients were monoclonal hematopoiesis. Karyotypes were analysed in 15 previously untreated AML patients,among them 6 were normal ,7 had one kind of abnormal karyotype and 2 had two kinds of aberration.4.Eleven(66.3%)were polyclonal hermatopoiesis in 15 AML patients after remission,the other 4 patients(26.7%)were skewed X chromosome inactivation .The latter had a higher skewed inactivation ratio than that in normal female controls,suggesting monoclonal remission.5.Out of four patients with clonal remission , one developed a new abnormal chromosome aberration and showed delayed sister chromatid diferentiation,two had normal karyotypes.Bone marrow smears showed no distinct trilineage myelodysplasia in all the 4 patients with clonal remission.Conclusion:1.The heterozygote rate of HUMARA gene for Chinese women in this study was 88%.The HUMARA gene has a stable mythelation pattern,It proved to be a good clonal marker2.About 11.6% of normal Chinese females showed skewed X chromosome...