132例男性不育患者遗传学病因分析

目的：对男性不育患者进行遗传学病因分析，并探讨其遗传效应。方法：采取132例男性不育患者外周血进行染色体核型分析。结果：132例男性不育患者中，染色体异常24例，染色体变异22例。其中大Y20例，47，XXY18例，45．XY，t(13；14)3例，小Y和46，XY，inv(9)各2例，46，XY，t(9；22)1例。结论：染色体异常是男性不育的重要原因，并建议男性不育患者进行基因诊断，以便确诊是否属于遗传病，为生育提供指导，避免盲目治疗。     

Goldenhar 综合征家系的临床表型和遗传学分析

目的分析1组Goldenhar综合征家系的临床表现及遗传学特征。方法我们随访到1组4代33人的Goldenhar综合征家系，对目前存活的29人进行了临床表型和遗传学的初步分析。结果家系内有Goldenhaar综合征患者5人．临床表现具高度多样性，累及眼、耳、脊柱、颜面、口腔等多个器官和系统的发育不良，在遗传方式上属于常染色体显性遗传。从细胞遗传学水平对家系中成员进行染色体检查，未发现核型异常。结论该Goldenhar综合征家系属常染色体显性遗传，染色体检查未发现核型异常。     

无精子症和严重少精子症134例遗传学分析

目的：研究无精子症和严重少精子症患者染色体畸变及Y染色体(Yql1区)无精子症因子(azoospermic factor，AZF)缺失情况，建立Y染色体微缺失的临床筛查方法。方法：对134例患者(无精子症97例，严重少精子症37例)经染色体核型分析及AZF、区三个位点8对引物PCR扩增，检测染色体畸变和Y染色体微缺失率。结果：134例中染色体核型异常9例，占6．72％。AZF缺失18例，缺失率为13．43％。无精子症和严重少精子症AZF、缺失率分别为14．43％、10．81％。结论：染色体畸变和Y染色体微缺失是导致无精子症和严重少精子症的主要原因之一。无精子症缺失率高于严重少精子症患者。AZF区三个位点8对引物PCR扩增可作为Y染色体微缺失的临床筛查方法。     

染色体图象微机处理系统的应用

染色体图象处理系统具有7组67个功能，基本功能有视频处理、图象预处理、染色体配对和排序、图形功能、标注和批处理功能。把该系统应用于苯中毒工人遗传学生物标记研究、兰索拉唑对中国仓鼠肺细胞染色体畸变的影响研究、妇产科病人标本及猴外周血淋巴细胞标本的观察和分析的结果表明，该系统实用性强，并具有先进性、稳定性、灵活性和可拓展性等特点。     

信号核素134Cs诱发体细胞和生殖细胞畸变效应比较研究

对１３４Ｃｓ诱发体细胞和生殖细胞的畸变效应进行了比较研究。方法观察内污染不同放射性活度１３４Ｃｓ时诱发同体骨髓细胞和精原细胞染色体畸变的量效关系，以及同一放射性活度１３４Ｃｓ作用不同时间诱发上述两种细胞的染色体畸变产额。结果研究发现，１３４Ｃｓ内照射诱发的骨髓细胞染色体畸变产额显著高于精原细胞，而其诱发的染色体畸变类型均以染色单体型畸变为主。结论由不同放射性活度１３４Ｃｓ所诱发的染色体畸变产额而言，骨髓细胞要比精原细胞高出１．５～５倍。     

慢性粒细胞白血病的核型及其预后意义

目的 :分析细胞遗传学在慢性粒细胞白血病 (CGL)的诊断、疗效及其预后中的临床意义。方法 :对 116例采用骨髓细胞直接法和 (或 )短期 ( 2 4h)培养法制备染色体标本 ,采用R显带技术进行核型分析。结果 :在 116例CGL中 ,发现 110例Ph( +) ,在病程各期 (慢性期、加速期、急变期 )均出现 ,占 94.8%。 6例Ph( -) ,占 5 .17%。其中 96例Ph( +)细胞为 10 0 % ,占 87.2 %。 14例Ph( +)细胞为 41.6%～ 93 .1% ,占 12 .7% ,核型呈嵌合状态。 12例除Ph( +)外 ,还出现额外染色体改变 ,占 10 .9%。分别为双Ph ,+8,-Y ,-7及超二倍体 ( >46条 )。绝大部分患者经干扰素、羟基脲治疗后Ph( +)阳性率不变。结论 :染色体核型分析不仅有助于CGL的诊断和鉴别诊断。还是监测病情缓解或复发的重要指标。     

骨髓增生异常综合症几项实验指标研究进展

本文对MDS染色体、骨髓祖细胞体外培养及免疫功能几项实验指标的研究进展予以介绍。     

Application of trans-abdominal chorionic villus sampling in prenatal diagnosis of chromosomal diseases in first trimester of gestation

Objective:To evaluate the feasibility and safety of prenatal diagnosis by traneabdominal chorionic villus sam-pling(TA-CVS)via the guidance of B-mode ultrasound in the first trimester of gestation.To explore the technique of long time culture and chromosome preparation of villi in early pregnancy.To evaluate the feasibility of the above techniques in the application of the prenatal cytogenetic diagnosis.Methods:One hundred and thirty-five singleton pregnancies at risk were referred from January 2001 to Decem-ber 2007.Results:The average maternal age was 35.2 years.TA-CVS was performed in the 10～13th weeks of gestation and the average gestational age was 10.89 weeks.All attempts at sampling were successful.The rate of operation-associated fetal loss was 0.74%.The failure rate of prenatal diagnosis because of inadequate amount of specimen was 0.The average culture time was 5-7 days.The success rate of the cell culture was 98.5%.No maternal con-temination and bacterial contamination happened.Fifteen cases of abnormal karyotype and one case of confined pla-cantel mosaiciem were diagnosed.Conclusion:TA-CVS appears to be safe and feasible and might to be offered in the prenatal diagnosis in the first trimester of gestation.The technique of long time culture and chromosome preparation of villi is stable and reliable.It is feasible to apply these techniques in the clinical practice of prenatal cytogenetic diagnose in the early pregnancy.     

Cytogenomics of cancers: From chromosome to sequence

The role of acquired chromosomal rearrangements in oncogenesis (cytogenomics) and tumor progression is now well established. These alterations are multiple and diverse and the products of these rearranged genes play an essential role in the transformation and growth of cancer cells. The validity of this assumption is demonstrated by the development of specific inhibitors or antibodies that eliminate tumoral cells by targeting some of these changes. Imatinib, an inhibitor of the tyrosine kinase ABL, the prototype of these targeting drugs, is yielding complete remissions in most CML patients. Knowledge of chromosomal abnormalities is becoming an essential contribution to the diagnosis and prognosis of cancers but also for monitoring minimal residual disease or relapse. The concept of the “cytogenetic uniqueness” of each cancer has resulted in personalized treatment. This investigation will expound upon, besides the recurrent genomic alterations, the numerous products of perverted Darwinian selection at the cellular level.