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研究目的探索X连锁基因P55、G6PD、BTK、FHL-1多态性位点在中国正常女性中的分布状态,以及应用4个多态性位点对骨髓增殖性肿瘤(MPN)和骨髓增生异常综合(MDS)征进行克隆性检测的临床价值。研究方法共收集446例中国正常女性外周血标本提取基因组DNA,应用等位基因特异性聚合酶链式反应(ASPCR)或聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)方法分析X连锁P55、G6PD、BTK、FHL-1基因多态性位点的杂合基因型频率。以上述基因杂合性位点作为克隆性检测的标记,提取具有杂合性位点的患者骨髓单个核细胞mRNA逆转录,应用X染色体失活的克隆性检测方法-转录检测法(TCA),检测24例临床疑诊为MDS或MPN的患者骨髓单个核细胞的克隆性。结果446例中国正常女性P55基因杂合基因型频率为29.4%(131/446例),G6PD基因杂合基因型频率为12.8%(57/446例),BTK基因杂合基因型频率为52%(232/446例)、FHL-1基因杂合基因型频率46.4%(207/446例)。具有4个多态性位点中1个或1个以上杂合性位点的正常女性占81.4%(363/446例)。应用X染色体失活的克隆性检测方法,16例原发性血小板增多症患者中11例检出单/寡克隆造血。8例血细胞减少症患者中,5例检出单/寡克隆造血,其中4例已临床确诊为MDS。结论基于X染色体失活的克隆性检测TCA可用于约80%的中国女性患者的克隆性分析,有助于MPN、MDS与其他血细胞增多/减少症的鉴别诊断。研究目的探讨骨髓涂片有核红细胞糖原染色(PAS)在骨髓增生异常综合征(MDS)骨髓发育异常血细胞形态学判断、诊断、鉴别诊断中的意义。研究方法回顾性分析406例MDS、67例巨幼细胞贫血(MegA)、76例缺铁性贫血(IDA)、207例非重型再生障碍性贫血(NSAA)、144例免疫性血小板减少性紫癜(ITP)、50例阵发性睡眠性血红蛋白尿(PNH)、50例急性红白血病(AEL)患者的骨髓涂片有核红细胞PAS染色结果及MDS患者的其它相关实验室检查结果,并进行统计学分析。结果MDS组有核红细胞PAS阳性检出率(53.0%)与NSAA组(14.5%)、ITP组(27.1%)、PNH组(16.0%)、AEL组(84%)比较均有统计学意义(P值均为0.000),但与MegA组(46.3%)、IDA组(40.8%)比较无统计学意义(P值分别为0.310和0.052)。MDS组有核红细胞PAS阳性率(中位数,M=1%)及阳性积分(M’=2)低于AEL组(M=8%；M’=17),高于NSAA组(M=0%；M’=0)、ITP组(M=0%；M’=0)、PNH组(M=0%；M’=0)、MegA组(M=0%；M’=0)、IDA组(M=0%；M’=0)(P值均<0.05)。有核红细胞PAS阳性率和阳性积分在除AEL外所有对照组中诊断MDS的最佳临界值(cut-off)分别为0.5%和0.5,其诊断敏感性60.8%,特异性74.4%。将MDS患者按有核红细胞PAS结果分为PAS阳性组和PAS阴性组,PAS阳性组较阴性组骨髓涂片红系比例(E)高,血红蛋白(HB)水平低,平均红细胞体积(MCV)小,平均红细胞血红蛋白含量(MCH)、平均红细胞血红蛋白浓度(MCHC)低(P值均<0.05)。PAS阳性组的骨髓巨核细胞总数、淋巴样小巨核数及小巨核细胞占巨核细胞比例均高于PAS阴性组(P值均<0.05)。外周血中性粒细胞碱性磷酸酶阳性指数(NALP)在PAS阳性组低于PAS阴性组(P=0.000)。伴异常染色体核型的MDS患者有核红细胞PAS阳性检出率、PAS阳性率、PAS阳性积分均高于染色体核型正常MDS患者；IPSS分型较高危险度组(中危-2+高危)MDS患者的PAS阳性检出率、PAS阳性率、PAS阳性积分均高于较低危险度组(低危+中危-1)。结论Objective To investigate the value of periodic acid-Schiff (PAS) stain in erythroblasts in judgement of dyserythropoiesis, diagnosis and differential diagnosis of myelodysplastic syndrome (MDS).Methods The PAS stain in bone marrow (BM) erythroblasts in 406 MDS pateints,207 non-severe aplastic anemia (NSAA),144 immune thrombocytopenic purpura (ITP), 67 megaloblastic anemia (MegA),76 iron deficiency anemia (IDA),50 paroxysmal nocturnal hemoglobinuria (PNH),50 acute erythroid leukemia (AEL) and other related laboratory tests data in MDS patients were analyzed retrospectively.Results The PAS-positive detection rate in MDS (53.0%) was significantly higher than in NSAA (14.5%), ITP (27.1%) and PNH (16.0%), but significantly lower than in AEL (84.0%) (All the P=0.000). There was no significant difference in the PAS-positive detection between MDS and MegA (46.3%),or MDS and IDA (40.8%) (P=0.310; P=0.052). The PAS-positive rate (Median, M=1%) and PAS-positive scores (M’=2) in erythroblasts in MDS was significantly lower than in AEL (M=8%; M’=17), and significantly higher than in NSAA (M=0%; M’=0), ITP (M=0%; M’=0), PNH (M=0%; M’=0), MegA (M=0%; M’=0), and IDA (M=0%; M’=0) (All the P< 0.05).The cut-off value of PAS-positive rate and score for the diagnosis of MDS from the other groups except AEL were 0.5% and 0.5, whose sensitivity and specificity were 60.8% and 74.4% respectively. MDS patients were divided into PAS-positive and PAS-negative groups according to PAS reaction, the percentage of erythroid cell in BM was significantly higher in PAS-positive group than in PAS-negative group (P <0.05), and so were megakaryocyte count, the lymphocyte-like micromegkaryocyte