NQ01C609T，RAD51G135c和XRCC3c241T单核苷酸多态性与急性淋巴细胞白血病发病相关性研究

本研究探索NQ01C609T,RAD51G135c和XRCC3c241T单核苷酸多态性与急性淋巴细胞白血病（ALL）发生的关系。对170例ALL患者和458名与患者无血缘关系的正常人,用聚合酶链反应一限制性内切酶片段长度多态性（PCR—RFLP）方法分析其NQ01C609T,RAD51G135c和XRCC3c241T基因型。结果表明：在单基因水平分析时NQ01C609T,RAD51G135c和XRCC3c241T基因型比例在正常对照和ALL患者之间无统计学差异,提示其单独作用时对ALL发病的影响无统计学意义。当3个基因联合分析时,NQ01C609T和RAD51G135c均为变异型时伴髓系抗原阳性的ALL和伴平衡易位ALL的发病风险增加（OR值分别为5．553和2．618）;NQ01C609T纯合变异型时农村儿童ALL的发病风险增加（OR值为2．541）。结论：NQ01C609T,RAD51G135c和XRCC3c241T基因型联合作用可能促进ALL的发病,提示多基因联合分析较单基因对ALL的发病分析可能更有预测意义。     

RAD51-G135C和XRCC3-C241T多态性与伴重现染色体易位急性髓系白血病发生的关系

目的 探讨DNA同源重组修复基因RAD51-G135C和XRCC3-C241T多态性与伴重现染色体易位急性髓系白血病(AML)发生的关系.方法 共收集625例初治原发性AML患者的骨髓、806名患者一级亲属和704名与患者无血缘关系正常人的外周血样本,常规提取基因组DNA.用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法分析RAD51-G135C和XRCC3-C241T基因多态性.选取XRCC3-C241T不同基因型细胞系进行体外照射,用TaqMan实时定量PCR法检测CBFβ-MYH11融合基因mRNA的相对表达量.结果 同正常人和一级亲属比较,XRCC3-C241T变异基因型(C/T+T/T)能明显提高inv(16)/t(16;16)/CBFβ-MYH11(+)AML的发病风险,风险值分别提高了6.22倍(P<0.001)和6.99倍(P<0.001);同正常人和一级亲属比较,RAD51-G135C纯合变异基因型(C/C)亦能明显提高inv(16)/t(16;16)/CBFβ-MYH11(+)AML的发病风险,风险值分别提高了0.87倍(P=0.010)和1.15倍(P=0.001).经照射后,XRCC3-C241T纯合变异型HL-60细胞系CBFβ-MYH11融合基因mRNA表达量是野生型KG1a细胞系的59.49倍.RAD51-G135C和XRCC3-C241T多态性位点基因型与t(15;17)/PML-RARα(+)AML、t(8;21)/AMLI-ETO(+)AML和11q23异常AML发生风险无明显相关性.结论 XRCC3-C241T变异基因型和RAD51-G135C纯合变异基因型可显著增高inv(16)/t(16;16)/CBFβ-MYH11(+)AML发生的风险.

Abstract：

Objective To investigate the relationship between DNA homologous recombination (HR) repair genes RAD51-G135C/XRCC3-C241T polymorphisms and development of acute myeloid leukemia (AML) with recurrent chromosome translocation. Methods Genomic DNA was extracted from bone marrow cells of 625 de novo AML patients and peripheral blood cells of 806 patient family members and 704 unrelated volunteers. Genotypes of RAD51-G135C and XRCC3-C241T were analyzed by PCR-RFLP. Cell lines with genotypes differed from XRCC3-C241T were selected and irradiated in vitro. The CBFβ-MYH11 fusion gene was detected by TaqMan real-time PCR. Results The XRCC3-C241T variant (C/T + T/T)showed 6. 22-fold and 6.99-fold increase in the risk of developing the AML with inv( 16)/t( 16;16)/CBFβ-MYH11 as compared with the volunteer and family member controls respectively; the RAD51-G135C homozygote-type (C/C) variant showed 0. 87-fold( P =0. 010) and 1. 15-fold(P =0.001) respectively increase in the risk of this subtype AML. In the irradiated group, the CBFβ-MYH11 mRNA level in HL-60 cells was 59.49 times increased than that in KG1a cells. However, the RAD51-G135C and XRCC3-C241T variants had no correlations with the risk of development of t( 15; 17)/PML-RARα( + ) AML,t(8;21 )/AML1-ETO( + )AML and 11 q23 AML subtypes. Conclusion The XRCC3-C241T variant and the RAD51-G135C homozygote-type significantly increase the risk of the development of AML with inv( 16)/t( 16;16)/CBFβ-MYH11.     

RAD51-G135C和XRCC3-C241T单核苷酸多态性与急性髓系白血病发病相关性研究

目的:探讨RAD51-G135C和XRCC3-C241T单核苷酸多态性与急性髓系白血病(AML)发病的相关性。方法:研究分为两组:AML患者组(545例AML患者的外周血样本)和对照组(1 034名与患者无血缘关系的正常人的外周血样本),分别抽提2组基因组DNA,通过Taq Man探针实时荧光定量PCR技术分析RAD51-G135C和XRCC3-C241T基因多态性,并分析两者多态性与急性髓系白血病发病相关性。结果:与对照组相比,RAD51-G135C纯合变异型(CC)可显著增加AML患者的发病风险(OR=3.07),而RAD51-G135C杂合变异型(GC)与AML发病无统计学相关性。XRCC3-C241T纯合变异型(TT)与AML发病尚无统计学相关性,而XRCC3-C241T杂合变异型(CT)却可增加AML患者的发病风险(OR=0.66)。结论:RAD51-G135C纯合变异型和XRCC3-C241T杂合变异型显著增高AML的发病风险,对AML的发病更有预测价值。     

GSTT1、GSTM1、NQO1、RAD51和XRCC3基因多态性与慢性粒细胞白血病发生关系的研究

目的探讨GSTT1、GSTM1、NQO1、RAD51和XRCC3基因多态性与我国慢性粒细胞白血病(CML)发生遗传易感之间的关系。方法共120例CML患者和458名与患者无血缘关系的正常人,用多重PCR方法检测GSTT1和GSTM1基因型,用PCR-RFLP方法分析RAD51,XRCC3,NQO1基因型。结果CML患者GSTT1和GSTM1缺失型比例分别为50.8%和59.2%,与正常对照组无显著差异(分别为42.8%和53.1%)。CML患者NQO1C/T和T/T基因型的比例(60.0%)、RAD51G135CG/C基因型比例(26.9%)和XRCC3-241Met杂合子缺失型(Thr/Met)的比例(9.2%)均与正常对照组(分别为65.3%,12.4%和9.2%)无统计学差异。结论本研究结果提示GSTT1、GSTM1、NQO1、RAD51和XRCC3基因型与我国CML的发生无显著相关性。     

RAD51-G135C和XRCC3-C241T多态性与inv(16)/t(16;16)/CBFβ-MYH11阳性急性髓系白血病预后的关系

目的 探讨DNA同源重组修复基因RAD51-G135C和XRCC3-C241T多态性与inv(16)/t(16;16)/CBβ-MYH11阳性急性髓系白血病(AML)患者预后之间的关系.方法 对染色体核型可供分析且随访资料完整的103例初治原发性inv(16)/t(16;16)/CBβ-MYH11阳性AML患者进行回顾性分析.用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测患者RAD51-G135C、XRCC3-C241T基因多态性.采用单因素(包括性别、初诊时年龄、白细胞计数、血小板计数、血红蛋白含量、染色体核型、KIT基因突变、RAD51-G135C和XRCC3-C241T基因多态性)和多因素分析方法评估患者完全缓解(CR)率、总体生存(OS)率和无复发生存(RFS)率的影响因素.结果 全部患者中位随访时间为28(1-106)个月,总体CR率为92.2%,预期5年OS率和RFS率分别为43.6%(95%CI 37.7%-49.5%)和26.4%(95%CI 21.1%-31.7%),预期中位OS时间和RFS时间分别为53.0(95%CI 33.4～72.7)个月和27(95%CI 22.9-31.1)个月.多因素分析结果显示:高白细胞计数(P=0.004)和年龄＞30岁(P=0.035)是与CR率有关的独立不良预后因素,XRCC3-C241T变异基因型(P=0.007)和高白细胞计数(P=0.009)是与RFS率有关的独立不良预后因素,高白细胞计数(P=0.002)和伴有+8染色体核型异常(P=0.035)是与OS率有关的独立不良预后因素;而RAD51-G135C基因型对此类白血病的预后无明显影响.结论 XRCC3-C241T变异基因型是inv(16)/t(16;16)/CBFβ-MYH11阳性AML一个独立的不良预后因素.

Abstract：

Objective To investigate the impact of polymorphisms of DNA homologous recombination (HR) repair genes RAD51-G135C and XRCC3-C241T on the prognosis of acute myeloid leukemia(AML)with inv(16)/t(16;16)(CBFβ-MYH11).Methods One hundred and three de novo inv( 16)/t(16;16)(CBFβ-MYH11) AML patients were followed-up and retrospectively analyzed.Polymorphisms of RAD51-G135C and XRCC3-C241T were detected by PCR-RFLP.The prognostic factors,including sex, age, white blood cell count, platelet count, hemoglobin level, karyotype, KIT mutation, RAD51-G135C and XRCC3-C241T polymorphisms at diagnosis, for complete remission (CR) achievement, overall survival (OS) and relapse-free survival (RIPS) were analyzed by univariate and multivariate analyses.Results The median follow-up of all patients was 28 (1 - 106) months.The overall CR rate was 92.2%.The estimated 5-year OS and RFS rates were 43.6% (95 % CI 37.7 % - 49.5 % ) and 26.4% (95% CI 21.1% - 31.7% ), and the median OS and RFS were 53 (95%CI33.4 -72.7) and 27 (95%CI22.9 -31.1) months, respectively.In multivariate analysis, higher WBC ( P = 0.004) and older than 30 years of age ( P = 0.035 ) were independent poor factors for CR achievement, the XRCC3-241T variant (P =0.007) and higher WBC (P =0.009)were independent poor factors for 5-year RFS,and higher WBC(P=0.002)and trisomy 8(P=0.035)were independent poor factors for 5-year survival.Polymorphism of RAD5 1-G135C had no significant impact on the prognosis.Conclusion The XRCC3-241T variant is an independent poor prognostic factor for AML with inv(16)/t(16;16)/CBFβ-MYH11.     

骨髓增生异常综合征患者GSTT1、GSTM1基因分布频率和NQO1基因多态性分析

目的探讨谷胱甘肽S转移酶（GST）基因T1、M1（GSTY1、GSTM1）和苯醌氧化还原酶基因（NQO1C609T）多态性与骨髓增生异常综合征（MDS）易感性及MDS染色体核型异常的关系。方法用多重PCR方法检测52例MDS患者和241名与患者无血缘关系的正常人GSTF1和GSTM1基因型，用PCR-限制性片段长度多态性（RFLP）方法分析NQO1C609T基因型。结果与正常人对照组相比，MDS患者GSTT1和GSTM1无效型（nu11）比例明显增高（P值均〈0．01），其比值比（OR）分别为2．873（95％可信区间：1．491～5．537）和3．591（95％可信区间：1．717～7．508）。染色体核型正常的MDS患者GSTT1无效型比例较正常人对照组显著增高（OR=5．336，P〈0．01），而GSTM1无效型比例与正常人对照组比较差异无统计学意义染色体核型异常的MDS患者GSTM1无效型比例较正常人对照组显著增高（OR=3．740，P〈0．01），而GSTT1无效型比例与正常人对照组比较差异无统计学意义MDS患者的NQI1C609T各基因型与正常人对照组差异无统计学意义。结论GSTT1和GSTM1基因无效型可能与MDS发生相关，对判断MDS患者是否出现染色体核型异常有一定意义。     

非小细胞肺癌中RAD51、ERCC2和BAG-1基因多态性与临床病理特征的关系

目的：探讨DNA损伤修复基因RAD51和切除修复交叉互补基因（ERCC2）/着色性干皮病基因（XPD ）ERCC2/XPD以及Bcl-2结合抗凋亡基因1（BAG-1）基因多态性与非小细胞肺癌临床病理特征的关系。方法采用病例对照研究设计,选取100例非小细胞肺癌病例和80例正常对照。选取ERCC2/XPD Lys751Gln和RAD51 codon 135以及BAG-1codon 324基因多态性为研究位点,以聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法进行多态性检测,应用Logistic回归计算OR值及95％CI,比较不同基因型与非小细胞肺癌发病风险的关系,并分析与非小细胞肺癌临床病理学特征的相关性。结果与野生基因型C/C型相比,携带ERCC2/XPD C/A基因型和A/A基因型者患非小细胞肺癌的OR分别是1．53（95％CI：1．15～3．32）和0．58（95％CI：0．15～2．39）;与野生基因型G/G型相比,RAD51 G/C基因型者患NSCLC的OR是1．03（95％CI：1．06～2．29）。与野生基因型C/C型相比,携带BAG-1C/T基因型者患NSCLC的OR是1．28（95％ CI：1．08～2．74）;ER-CC2/XPD C/A和A/A基因型多态性与淋巴结转移状态有相关性（P＝0．038,OR＝2．26,95％CI：1．69～3．59）;与远处转移几率的相关性更好P＝0．005,OR＝2．47,95％CI：1．38～4．24）。BAG-1 codon 324 C/T型,RAD51 codon 135 G/C型基因多态性与淋巴结转移状态有相关性（P＝0．042,OR＝2．57,95％CI：1．62～4．44和P＝0．049和OR＝2．86,95％CI：1．39～3．62）。结论 DNA损伤修复基因ERCC2/XPD和RAD51以及BAG-1基因多态性增加了非小细胞肺癌发生的风险,ERCC2/XPD和RAD51以及BAG-1基因多态性改变与非小细胞肺癌患者的淋巴结及远处转移密切相关。     

抑癌基因pten在骨髓增生异常综合征及急性髓系白血病的表达

为了研究pten基因在骨髓增生异常综合征（MDS）、急性髓系白血病（AML）患者中的表达及其意义，采用逆转录．聚合酶链反应（RT—PCR）和免疫印迹杂交（Western blot）方法检测Jurkat细胞株、35例MDS、45例AML及20例正常人骨髓有核细胞中pten mRNA及其蛋白的表达。结果表明：pten mRNA在阴性对照Jurkat细胞株不表达。MDS组的阳性表达率（77．1％）低于正常对照组（90．0％），但差异无统计学意义（P〉0．05）；AML组阳性表达率（60．0％）低于正常对照组，差异有统计学意义（P〈0．05）；MDS—RAEB组阳性表达率（70．0％）低于MDS—RCMD组（86．7％），初发／复发AML组阳性表达率（53．3％）低于完全缓解AML组（73．3％），但差异均无统计学意义（p〉0．05）。对各组pten mRNA相对表达量分析发现，MDS及AML组均明显低于正常对照组（P〈0．005）；MDS-RAEB组低于MDS-RCMD组（P〈0．05）；初诊／复发的AML组明显低于完全缓解的AML组（P〈0．001）；MDS组与AML组相比，差异无统计学意义（p〉0．05）。PTEN蛋白表达阳性率在MDS组（65．7％）及AML组（54．8％）均低于正常对照组（90％）（P〈0．05）；MDS—RCMD组（80．O％）与MDS—RAEB组（55．0％）相比，阳性表达率均无统计学意义（P〉O．05），但初诊／复发的AML组（44．4％）与完全缓解的AML组（73．3％）相比，差异有统计学意义（p〈0．05）。结论：pten mRNA在MDS、AML中表达完全缺失并不多见，但表达强度较正常人明显减弱。PTEN蛋白在MDS、AML中阳性表达率低于正常人，且与mRNA表达水平不一致。pten基因的表达异常参与了MDS及AML的发病。     

新生儿CYP1A1、GSTM1、GSTT1基因的多态性分布

目的 研究新生儿CYP1A1、GSTM1、GSTT1基因的多态性分布，为新生儿建立相应基因型记录，达到防病治病的目的。方法 收集新生儿脐血，抽提其中有核细胞的DNA，PCR扩增CYP1A1、GSTM1、GSTT1基因的特征性外显子片段。限制酶切CYP1A1扩增产物，RFLP分析每个标本的基因型；非变性聚丙稀酰胺凝胶电泳分析GSTM1、GSTT1的基因型。结果 CYP1A1、GSYM1和GSTT1基因型均成多态性分布，CYP1A1的基因型分布有3种，分别为A/A基因型占60．9％、A/G基因型占34．5％、G／G基因型占4．5％；GSTM1的基因型有2种分别为GSTM1＋／＋和GSTM1＋／0占85．5％、GSTM1-／-占14．5％。GSTT1基因型分布为GSTT1＋／＋和GSTT1＋／0占76．1％，GSTT10／0为23．6％。结论 在正常出生的新生儿中，他（她）们的代谢酶CYP1A1、GSTM1、GSTT1基因存在着多态性分布的现象。     

亚甲基四氢叶酸还原酶基因多态性与乳腺癌化疗敏感性的关系

目的观察叶酸代谢的关键酶亚甲基四氢叶酸还原酶（MTHFR）基因C677T、A1298C多态与乳腺癌患者对化疗敏感性的关系。方法收集经病理学确诊的晚期乳腺癌患者61例，所有病例化疗前抽静脉血，提取白细胞DNA，用PCR—RFLP技术检测MTHFR基因型。接受6种不同的化疗方案化疗。结果61例乳腺癌癌患者中，MTHFRC／C基因型17例（27．9％）、C／T29例（47．5％）、T／T15例（24．6％）。MTHFR A1298C A／A基因型42例（68．9％），17例（27．9％）A／C基因型，2例（3．3％）C／C基因型。化疗总有效率为67．2％（41／61），其中CR3例（4．9％），PR38例（62．3％），SD15例（24．6％），PD5例（8．2％）。6种化疗方案的有效率无统计学差异（P=0．397）。MTHFRC／C基因型、C／I＂基因型、T／]r基因型的有效率分别为58．8％、58．6％、93．3％，T/T基因型患者的有效率显著高于C／C基因型（P=0．041）和C／T基因型患者（P=0．034）。MTHFR A1298C A／A基因型、A／C基因型、C／C基因型的有效率分别为71．4％、64．7％、0．0％，MTHFR A1298C A／A基因型患者的有效率与A／C基因型（P=0．756）、C／C基因型患者之间无统计学差异（P=0．096）。结论本研究初步结果显示MTHFR C677T基因多态性对预测乳腺癌化疗疗效具有较好的临床应用价值。     

Single nucleotide polymorphisms in the homologous recombination repair genes and breast cancer risk in Polish women

Genetic polymorphisms in homologous recombination repair genes that can lead to protein haploinsufficiency are generally associated with increased cancer risk. The aim of the present study was to evaluate associations between the risk of breast cancer and single nucleotide polymorphisms in the genes, encoding three key proteins of the homologous recombination repair: RAD51 (the human homologue of the E. coli RecA protein), X-ray repair cross-complementing group (XRCC) 2 and XRCC3. The polymorphisms studied were G135C of the RAD51 gene (c. -98 G>C; rs1801320), Arg188His of the XRCC2 gene (c. 563 G>A; rs3218536), and Thr241Met of the XRCC3 gene (c. 722 C>T; rs861539). Each polymorphism was genotyped by the PCR-RFLP (restriction fragment-length polymorphism) method in 700 Polish female patients with sporadic breast cancer and in 708 cancer-free women, who served as controls. In the present study, we showed the association between RAD51 G135C polymorphism and the incidence of breast cancer (p < 0.0001), but found no significant association with XRCC2 Arg188His or XRCC3 Thr241Met polymorphism. Instead, significant association was identified between XRCC2 Arg188His or XRCC3 Thr241Met polymorphism and breast cancer progression, assessed by the histological grading. However, each of these three polymorphisms was not associated with the tumor size or the lymph node metastases. This study provides evidence that links single nucleotide polymorphisms of RAD51 and XRCC2/3 genes with the risk of breast cancer in Polish women. In conclusion, RAD51 G135C, XRCC2 Arg188His and XRCC3 Thr241Met polymorphisms may be regarded as predictive factors of sporadic breast cancer in female population.     

Polymorphisms in genes involved in DNA repair and metabolism of xenobiotics in individual susceptibility to sporadic diffuse gastric cancer.

BACKGROUND: Gastric cancer is the second highest cause of cancer mortality in the world, despite declining rates of incidence in many industrialized countries. We carried out a case-control study to evaluate whether polymorphisms of DNA repair and glutathione S-transferase (GST) genes modulate the risk of developing diffuse gastric cancer. METHODS: ERCC1 118 T/C, XRCC1 399 G/A, XPD 312 G/A, XPD 751 A/C, XRCC3 241 C/T, MS 919 A/G, GSTP1 105 A/G, GSTM1-null/positive and GSTT1-null/positive genotypes were obtained for a series of 126 Helicobacter pylori-negative diffuse gastric cancer patients and 144 Helicobacter pylori-negative controls sampled from the population of Marche, an area with high gastric cancer risk in central Italy. RESULTS: GSTP1 105 A/G and GSTP1 105 G/G genotypes were identified as protective factors, with odds ratio (OR) of 0.4 (95% CI 0.17-0.81, p=0.01) and OR=0.58 (95% CI 0.33-1, p=0.05), respectively. GSTT1-null genotype was identified as a protective factor, with OR=0.48 (95% CI 0.22-0.99, p=0.04). There was no significant difference between cases and controls for XPD 751 A/C, ERCC1 118 T/C, XRCC3 241 C/T, XRCC1 399 G/A, XPD 312 G/A, GSTM1-null/positive and MS 919 A/G polymorphisms. CONCLUSIONS: This study suggests that GSTP1 105A/G and GSTT1-null/positive genotypes might be associated with a reduced risk for sporadic diffuse gastric cancer. Clin Chem Lab Med 2007;45:822-8.     

Single nucleotide polymorphisms for DNA repair genes in breast cancer patients

BACKGROUND: The incidence rate for breast cancer (BC) has been increasing in many countries and BC still remains the most common form of cancer in female and continues to be a major health problem worldwide. We explored the association of single nucleotide polymorphisms (SNPs) in DNA repair genes with breast cancer. METHODS: SSCP and RFLP were used to analyze genotypes of DNA repair genes for NBS1, XPC, XPD and XRCC3. RESULTS: T/C in XRCC3 exon 7 had a somewhat deviation from HWE in BC group (P=0.08). The genotype frequency for heterozygote A/C in XPC exon 15 and T/C in XRCC3 exon 7, homozygote A/A in XPD exon 10 were significantly different between BC group and control group in Chinese population (P<0.05, OR=1.47, 95% CI, 1.00-2.16 for A/C in XPC exon 15; P<0.05, OR=1.79, 95% CI, 0.98-3.26 for T/C in XRCC3 exon 7; P<0.05, OR=0.51, 95% CI, 0.27-0.94 for G/A in XPD exon 10). For the SNPs in NBS1 exon 5 (Glu185Gln, G/C) and XPD exon 23 (Lys751Gln, A/C), no remarkable difference for genotype distributions and allele frequencies was observed between BC group and control group in the study. CONCLUSIONS: The genotypes of A/C in XPC exon 15, T/C in XRCC3 exon 7 and A/A in XPD exon 10 studied were significantly different between BC group and control group in Chinese population.     

急性髓系白血病CBFB-MYH11融合基因检测新方法的建立和应用

本研究建立急性髓系白血病CBFB-MYH11融合基因检测新方法并探讨其应用价值。通过检索文献及数据库,确定已报道CBFB-MYH11融合基因的所有融合形式,据此设计引物和探针并构建了3个阳性质粒和阴性细胞系作为对照,完成多重实时PCR扩增CBFB-MYH11融合基因和GUSB(内控基因)的检测体系。使用该体系对58份急性髓系白血病标本进行分析并对所有检出的阳性标本进行测序验证。PCR扩增结果显示,本方法可对所有阳性质粒进行有效检测,且灵敏度均可达10个拷贝;在58份标本中,检出4份阳性标本,阳性率6.9%,分别为A型和J型。与染色体核型分析结果相比,本方法多检出了1例阳性标本;与测序相比,结果均一致。结论:本研究建立的逆转录多重PCR检测体系可用于筛查所有融合形式的CBFB-MYH11融合基因,具有快速、全面、灵敏、可靠的优点,有助于临床上CBFB-MYH11融合基因阳性患者的诊断和疗效评价。     

骨髓增生异常综合征患者骨髓细胞周期及CD34+细胞增殖特征的研究

目的　探讨骨髓增生异常综合征 (MDS)患者骨髓细胞周期分布及CD34 细胞增殖特征。方法　碘化丙锭细胞核染色分析MDS、MDS转化的急性髓系白血病 (MDS AML)和原发性AML患者骨髓G0 /G1期、S期和G2 /M期细胞比例 ;免疫荧光双标法分析 3组患者骨髓CD34 细胞中增殖性抗原Ki6 7的表达。结果　与正常组相比 ,MDS患者和原发性AML患者骨髓单个核细胞 (BMM NC)G0 /G1期细胞比例呈明显增高趋势 [(92 .4 8± 4 .4 8) %、(96 .71± 2 .75 ) %对 (86 .94± 6 .77) % ](P<0 .0 5 ) ,而MDS组与正常组相比 ,S期和G2 /M期比例呈明显降低趋势 [(6 .79± 3.98) %、(0 .86±0 .82 ) %对 (11.97± 7.0 0 ) %、(1.10± 0 .98) % ](P值均 <0 .0 5 )。MDS AML患者与原发性AML相比 ,G0 /G1期细胞为 (91.16± 7.0 9) %对 (96 .71± 2 .75 ) % ,S期为 (7.90± 6 .70 ) %对 (2 .87± 2 .4 9) %、G2 /M期为 (0 .96± 0 .99) %对 (0 .4 3± 0 .4 2 ) % ,S G2 /M期为 (8.84± 7.0 9) %对 (3.34± 2 .83) % (P值均 <0 .0 5 )。MDS患者骨髓CD34 Ki6 7 细胞明显高于正常组 [(1.13± 1.10 ) %对 (0 .2 4±0 .2 2 ) % ](P <0 .0 1) ,MDS低危组患者CD34 Ki6 7 细胞为 (0 .5 4± 0 .4 9) % ,明显低于高危组 [(1.6 9± 1.6 6 ) % ](P <0 .0