栀子染色体核型带型研究

报告了山栀子及水栀子染色体核型带型研究。结果:染色体数目均为2n=22,着丝点位置以中部(m)和近中部(sm)为主,均有1对随体,属于2B核类型,较为对称,以对你性度看,山栀子较为原始。     

A new case of partial trisomy of 17 long arm. Densitometric analysis of aberrations

Partial trisomy of the long arm of the chromosome 17 was found in a male infant with severe psychomotor retardation and numerous developmental anomalies. Differential staining with GTG, QFQ and CBG methods revealed an excess of genetic material on the short arm of chromosome 14, which was preliminarily identified as the distal part of chromosome 17q. Using an automatic picture analyser, chromosome break points were found in the 17q12 and 14p12 bands. The patient's karyotype was identified as 46,XY,t(14;17) (14qter14p12:17q1217ater).This work is partially supported by Grant No. 06.9 of the Polish Academy of Sciences     

Trisomy 21 q: 46,XX,21s+/47,XX,+21q−(q22→qter) mosaicism (de novo) in a down syndrome child

A three year old girl with clinical features of Down syndrome and mental retardation is reported. Karyotype of the proband was 46,XX,21s⁺/47,XX,21q→(q22−qter), resulting in partial trisomy for chromosome 21. Her father, phenotypically normal, was a carrier for 21s+variant chromosome (46,XX,21s⁺). The maternal age was 32 years. This case further confirms that the Down phenotype is due to the trisomy of the distal segment of the band q22 of chromosome 21.     

具有高转移潜能的人肝癌细胞系的建立及其生物学特性

目的利用裸鼠人肝癌高转移模型（ＬＣＩ－Ｄ２０）的皮下移植瘤组织在体外建立一株具有高转移潜能的人肝癌细胞系（ＭＨＣＣ９７）,并对其一般生物学特性进行观察。方法将分离的瘤细胞制成细胞悬液,用１０％人ＡＢ型血清的高糖ＤＭＥＭ培养液建成该细胞系,采用流式细胞术和染色体Ｇ－显带方法,进行细胞遗传学分析;用ＡＢＣ免疫组化法,观察其肺转移灶中癌细胞甲胎蛋白（ＡＦＰ）表达情况。结果ＭＨＣＣ９７细胞为典型的上皮样细胞,符合一般上皮性恶性肿瘤细胞的病理学特征。该细胞经皮下和肝内接种均可使裸鼠致瘤,并发生肺部转移。肝内接种者,肺转移达１００％（１２／１２）。ＭＨＣＣ９７细胞为异倍体细胞,染色体均为超二倍体,ｉ（１）（ｑ）和ｄｅｒ（４）（ｐｔｅｒ→ｑ３５：：？）等为其标志染色体,未显示有完整Ｙ染色体存在。肺转移灶的癌细胞ＡＦＰ阳性。结论ＭＨＣＣ９７细胞具有与原移植瘤相似的生物学特性。染色体的畸变可能与其发生发展有关     

两个人食管癌细胞系的建立及染色体分析

目的结合传统细胞遗传学和新近发展起来的分子细胞遗传学方法,对１９８７年我室建立的两例食管癌细胞系ＥＣ８７１２和ＥＣ８７３３进行细胞遗传学分析。方法采用组织块培养法,用１．５％牛血清的１９９培养液,成功地建立了这两个细胞系,做了初步的生物学鉴定,并采用染色体Ｇ显带、染色体荧光原位杂交和比较基因组杂交等方法进行了细胞遗传学和分子遗传学的检测。结果发现两个细胞系经异种接种均形成移植性肿瘤,染色体为非整倍体,他们均有Ｙ染色体丢失、１ｐ缺失、２ｑ易位、５ｐ扩增,ＥＣ８７３３有８ｑ、１３ｑ扩增,ＥＣ８７１２有１７ｐ缺失。结论提示检出的这些畸变可能与肿瘤的发生、发展有关。     

Synergistic effect of inhibitors of topoisomerase I and II on chromosome damage and cell killing in cultured Chinese hamster ovary cells

Simultaneous treatment of cultured Chinese hamster ovary cells with the topoisomerase I inhibitor camptothecin and the topoisomerase II inhibitor 4-(9-acridinylamino)-methanesulfon-m-anisidide results in a clear synergistic effect on both chromosome damage detected at metaphase and loss of colony-forming ability. In contrast, the effect of combined treatment with these topoisomerase inhibitors on sister chromatid exchanges was not significantly different from that expected if the effects were additive. Taken as a whole, these results seem to support the hypothesis that topoisomerase inhibitors can lead to cell death, presumably when DNA replication forks collide with drug-stabilized cleavable complexes. Nevertheless, no evidence of apoptosis was obtained from DNA fragmentation analysis. The possible clinical implications of our findings are discussed.     

hKCNN3 which maps to chromosome 1q21 is not the causative gene in periodic catatonia, a familial subtype of schizophrenia

The human calcium-activated potassium channel gene (hKCNN3, hSKCa3) contains two tandemly arranged, multiallelic CAG repeats located in exon 1 which result in short to moderate polyglutamine stretches of unknown functional significance. Case-control and family-based association studies suggested an association of hKCNN3 repeats with susceptibility for schizophrenia. Twelve multiplex pedigrees with periodic catatonia, a schizophrenia subtype with major gene effect and patterns of anticipation, were genotyped using the multiallelic hKCNN3 repeat polymorphism. Using a dominant model of inheritance with sex- and age-dependent penetrance classes, cumulative results showed exclusion of linkage of hKCNN3 to periodic catatonia under the assumption of genetic homogeneity with lod score of −48.01 at zero recombination fraction. Our results provide evidence that hKCNN3 is not the causative gene in the familial schizophrenia subtype of periodic catatonia. By fluorescent in situ hybridization we confirmed the assignment of hKCNN3 to chromosome 1q21 near the heterochromatin region. Linkage mapping showed segregation with marker DIS498 (θ=0.05) and placed hKCNN3 in the genetic linkage map in a cluster of genes near the centromeric region of chromosome 1. Received: 14 April 1999 / Accepted: 22 February 2000     

9号染色体臂间倒位的遗传效应研究

目的 研究人类9号染色体臂间倒位的遗传效应，分析9号染色体臂间倒位与流产、死胎、不孕和不育等的关系。方法 采取患者外周血进行淋巴细胞培养，按常规方法制备染色体，应用G显带和C显带技术进行染色体核型分析。     

广东部分地区376例遗传咨询者染色体21-三体综合征分析

目的了解广东地区临床1岁以内婴幼儿的21-三体综合征的发生及分布情况.方法本文通过遗传咨询筛查,和进行G显带染色体研究,对在2004年1年内376例来自广东省各地区临床的1周岁以内的婴幼患儿进行检查.结果检出异常核型113例,总的异常率为30.05%.其中21三体95例,占总异常的84.07%,男性21三体60例,女性21三体35例,是婴儿染色体异常的主要原因.结论21三体患儿的出生给家庭和社会带来沉重的负担和许多不良影响.本文提出,整个社会都应大力提倡通过产前筛查(孕早期AFP、uE3、β hCG组合项目筛查)、产前诊断(脐血、羊水等染色体检查)及选择性人工流产的方法杜绝患儿出生.     

A recognizable phenotype in a child with partial duplication 13q in a family with t(10q;13q)

A case of partial duplication 13q14 → qter is reported in a 9-year-old male with clinical symptoms which include trigonocephaly and synophrys, producing an easily identifiable phenotype. The chromosome duplication resulted from a familial t(10;13)(qter;q14). Subsequently, a normal balanced carrier sibling was diagnosed prenatally.