2000例外周血细胞染色体检查的结果分析

目的：观察分析2000例外周血细胞染色体检查的结果，总结细胞遗传学检测的临床应用价值。方法：选择我院2010年6月至2011年6月2000例血细胞染色体检查的结果，对其临床资料进行回顾性分析。结果：2000例外周血细胞染色体检查结果中，异常核型144例（7．2％），其中为孕育障碍异常核型94例（71．1％），智障异常核型20例（13．9％），原发性闭经异常核型18例（12．5％），男性生殖器发育不全异常核型12例（8．3％），孕育障碍异常核型检出率最高。明显高于其它病因，差异显著（P〈0．05）。具有统计学意义。结论：本次抽检人群中以孕育障碍异常核型的检出率最高，细胞遗传学检验对于疾病的早期诊断有重要的临床应用价值。

1260例血细胞染色体检查的结果与分析

染色体是人类遗传物质DNA的载体,在某些因素作用下,染色体可发生数目或结构上的改变,染色体的异常可导致机体各种临床症状,甚至死亡。目前已知染色体异常在一般人群中发生率为0.5％,占新生活婴的0.5％～1％。本文就岳阳县1260例外周血染色体检查结果,进行了总结和分析,现报告如下。

探讨介入性产前诊断在产前超声中的应用

目的探讨产前超声中介入性产前诊断的应用。方法回顾性分析2018年9月—2020年3月我院产前超声检查发现各类先天异常孕妇80例,采用REP电泳系统检测十二指肠闭锁,采用G显带分析脐血、羊水细胞染色体,然后分析80例孕妇超声异常胎儿性别分布情况、检查方法、检查结果、临床系统分布情况、妊娠结局。结果80例孕妇超声异常胎儿中,在性别分布情况方面,男性37例,女性36例,不详7例,分别占总数的46.3%、45.0%、8.8%;在检查方法方面,染色体检查74例,占总数的92.5%,其中细胞不生长4例,占5.4%,巴氏水肿胎2例,占50.0%。染色体异常16例,占总数的20.0%,在染色体核型方面,47,XY,+213例,占18.8%,47,XX,+21、47,XY,+18、47,XX,+18、47,XYY,Yqh+、46,XY/47,XY,+21、46,XX/47,XX,+21、46,XY,Yqh+、46,XY,inv(9),Yqh+、46,XX,inv(9)、46,XY,15pstk+、45,XY,der(14;18)(q10;q10)、45,XY,rob(14;15)、45,XO均1例,占6.3%。先天性心脏病16例,神经系统异常7例,消化系统异常5例,泌尿系统异常3例,肢体短小6例,多发畸形16例,水肿胎12例,单脐动脉7例,颈部水囊瘤7例,胎儿生长迟缓7例,分别占总数的20.0%、8.8%、6.3%、3.8%、7.5%、20.0%、15.0%、8.8%、8.8%、8.8%。治疗性引产53例,分娩27例,分别占总数的66.3%、33.8%。结论产前超声中介入性产前诊断的应用价值高。

Cytogenetic Effects of Pulsing Electromagnetic Field on Domestic Pig Lymphocytes in Vitro

The effects of pulsing electromagnetic fields(PEMFs)on cells are very important subjects in the field of bioelectromagnetics.In this experiment,the cytogenetic effects of PEMF on domestic pig lymphocytes were tested in vitro.Pig lymphocytes in RPMI 1640 medium were exposed to PEMFs of 100 kHz and 200 kHz for 12,24 and 48 hours.Chromosomal aberrations(aneuploidy,breaks,gaps,et al)were significantly increased in exposed cultures,and of these aberrations,56%chromosomal or chromatid breaks and 42%gaps induced by PEMFs were the points of pig chromosomal fragile sites.The baseline frequency of sister chromatid exchange(SCE)increased after exposing lymphocytes continuously to PEMFs of 100 kHz and 200 kHz for 48 hours.These results suggested that the exposure to PEMFs might induce a type of DNA lesion and chromosomal aberrations.

PRAME Gene Expression in Acute Leukemia and Its Clinical Significance

Objective To investigate the expression of the preferentially expressed antigen of melanoma （PRAME） gene in acute leukemia and its clinical significance. Methods The level of expressed PRAME mRNA in bone marrow mononuclear cells from 34 patients with acute leukemia （AL） and in 12 bone marrow samples from healthy volunteers was measured via RT-PCR. Correlation analyses between PRAME gene expression and the clinical characteristics （gender, age, white blood count, immunophenotype of leukemia, percentage of blast cells, and karyotype） of the patients were performed. Results The PRAME gene was expressed in 38.2% of all 34 patients, in 40.7% of the patients with acute myelogenous leukemia （AML, n=27）, and in 28.6% of the patients with acute lymphoblastic leukemia （ALL, n=7）, but was not expressed in the healthy volunteers. The difference in the expression levels between AML and ALL patients was statistically significant. The rate of gene expression was 80% in M~, 33.3% in M2, and 28.6% in M~. Gene expression was also found to be correlated with CDl5 and CD33 expression and abnormal karyotype, but not with age, gender; white blood count or percentage of blast cells. Conclusions The PRAME gene is highly expressed in acute leukemia and could be a useful marker to monitor minimal residual disease. This gene is also a candidate target for the immunotherapy of acute leukemia.

Atypical Chronic Myeloid Leukaemia with Trisomy 13: a Case Report

ATYPICAL chronic myeloid leukaemia （aCML）, which shows both myeloproliferative and mye- Iodysplastic features, is a type of myeloprolif- erative/myelodysplastic disease as defined bythe World Health Organisation （WHO） classification of the myeloid neoplasms. Because of the presence of neutrophilic leukocytosis, aCML may resemble chronic myeIogenous leukemia （CML）. However, in contrast with CML, aCML does not have the Philadelphia chromosome or the bcr/abl fusion gene.

A novel t(3;12)(q21;p13) translocation in a patient with accelerated chronic myeloid leukemia after imatinib and nilotinib therapy

The acquisition of secondary chromosomal aberrations in chronic myeloid leukemia (CML) patients with Philadelphia chromosome-positive (Ph+) karyotype signifies clonal evolution associated with the progression of the disease to its accelerated or blastic phase. Therefore, these aberrations have clinical and biological significance. T(3;12)(q26;p13), which is a recurrent chromosomal aberration observed in myeloid malignancies, is typically associated with dysplasia of megakaryocytes, multilineage involvement, short duration of any blastic phase, and extremely poor prognosis. We have identified a recurrent reciprocal translocation between chromosomes 3 and 12 with different breakpoint at bands 3q21 in the malignant cells from a 28-year-old man. The patient was initially diagnosed as having Ph+ CML in the chronic phase. The t(3;12)(q21;p13) translocation occurred 4 years after the patient was first diagnosed with CML while undergoing tyrosine kinase inhibitor therapy. We confirmed the t(3;12)(q21;p13) translocation via fluorescence in situ hybridization assay by using whole-chromosome paint probes for chromosomes 3 and 12. Our findings demonstrate that, similar to other recurrent translocations involving 3q26 such as t(3;3) and t(3;21), the t(3;12)(q21;p13) translocation is implicated not only in myelodysplastic syndrome and acute myeloid leukemia but also in the progression of CML. These findings extend the disease spectrum of this cytogenetic aberration.

Safety and effect of umbilical cord blood -derived mesenchymal stem cells on apoptosis of human cardiomyocytes

Objective To study the safety and effect of the umbilical cord blood （UCB）-derived mesenchymal stem cells （MSCs） on apoptosis of human cardiomyocytes （HCM）. Methods UCB was collected at the time of delivery with informed consent obtained from 10 donors. The UCB-derived MSCs were treated with 5-azaserube （5-AZA） and were further induced to differentiate into cardiomyocytes. Telomerase activity, G-banding patterns of chromosomal karyotypes, tumor formation in nude mice, RT-PCR, and the effect of inhibiting apoptosis of HCM were investigated. Results MSCs derived from UCB were differentiated into cardiomyocytes in vitro, which possessed telomerase activity after 5-AZA induction, and no abnormal chromosomal karyotypes were observed. Expression of p53, cyclin A, cdk2, ~3 -actin, C-fos, h-TERT and c-myc were similar in MSCs before and after 5-AZA treatment. There was no tumor formation in nude mice after injection of UCB-derived MSCs. UCB-derived MSCs significantly inhibited apoptosis of HCM. Conclusion UCB-derived MSCs are a valuable, safe and effective source of cell-transplantation treatment .