水貂的染色体研究

采用复制带、C带和硝酸银染色等分带技术研究了水貂的核型和带型。结果表明,2n=30,枝型为10（M）＋16（SM）＋2（A）,XX（M）。C-带显示该水貂的一些染色体的结构异染色质比较丰富,从着丝粒区域延伸到两臂上,No.5染色体着丝粒结构异染色质有些弱化;X染色体的结构异染色质较常染色体的丰富。Ag-NORs有3个,分布在No.8染色体的次缢痕区域和一条No.2染色体长臂接近着丝粒的区域。     

Heterochromatic banding pattern in two Brazilian populations of Aedes aegypti

We analysed samples of Aedes aegypti from São José do Rio Preto and Franca (Brazil) by C‐banding and Ag‐banding staining techniques. C‐banding pattern of Ae.aegypti from São José do Rio Preto examined in metaphase cells differed from Franca. The chromosomes 2, 3 and X showed centromeric C‐bands in both populations, but a slightly stained centromeric band in the Y chromosome was observed only in São José do Rio Preto. In addition, the X chromosome in both populations and the Y chromosome of all individuals from São José do Rio Preto showed an intercalary band on one of the arms that was absent in Franca. An intercalary, new band, lying on the secondary constriction of chromosome 3 was also present in mosquitoes of both populations. The comparison of the present data with data in the literature for Ae.aegypti from other regions of the world showed that they differ as to the banding pattern of sex chromosomes and the now described intercalary band in chromosome 3. The observations suggested that the heterochromatic regions of all chromosomes are associated to constitute a single C‐banded body in interphase cells. Ag‐banding technique stained the centromeric regions of all chromosomes (including the Y) and the intercalary C‐band region of the X chromosome in both populations. As Ae.aegypti populations are widespread in a great part of the world, the banding pattern variations indicate environmental interactions and may reveal both the chromosome evolutionary patterns in this species and the variations that may interfere with its vector activity.     

Two extra euchromatic bands in the qh region of chromosome 9

Chromosome analysis in a fetus revealed an abnormal appearance of chromosome 9. The secondary constriction region of chromosome 9 was very large and two separate G+ bands were observed within this region with GTG banding. Parents' karyotypes showed maternal inheritance of this variant chromosome 9. Two G+ bands were stained negative with C banding both in the fetus and in the mother. The mother was phenotypically normal. Regarding phenotypically normal mother, normal fetal ultrasonographic findings and the similar cases described before in the literature it was considered that the fetus would be normal. Physical examination of the baby was normal after birth as expected. The existence of two G+ bands in 9qh was considered to be a normal variant in humans.     

白眉长臂猿(Hylobates hoolock leuconedys)的染色体研究

本文对两只雄性白眉长臂猿的染色体的C带、G带及Ag-NORs分布进行了较详细的分析,证实染色体数2n=38,并对该种的分类地位提出了一些新看法。     

Partial tetrasomy 9(9pter to 9q2101) due to an extra iso-dicentric chromosome.

A 3-year-old boy with partial No. 9 tetrasomy is described. The patient showed markedly retarded physical and mental development as well as multiple congenital anomalies. Routine chromosome analysis revealed an extra C-group chromosome. It had a pronounced secondary constriction at the proximal part of its long arm. Based on studies by a variety of banding techniques, the extra chromosome was identified to be an iso-dicentric No. 9 chromosome with inactivation of one of the two centromeres, the karyotype being 47,XY, + DIC (9)(Q2101). The value of BrdUrd treatment was emphasized in the detection of a very small piece of euchromatin within a long stretch of constitutive heterochromatin.     

白颊长臂猿染色体的研究

本文对我国云南南部的白须长臂猿（Ｈ．ｌｅｕｃｏｇｅｎｙｓ）染色体的Ｇ带、Ｃ带、晚复制带及Ａｇ－ＮＯＲｓ进行了较为详细的研究。它的２ｎ＝５２,核型公式为４４（Ｍ或ＳＭ）＋６（Ａ）,ＸＹ（Ｍ,Ａ）。Ｃ带表明一些染色体着丝点Ｃ带弱化;有的染色体出现插入的和端位的Ｃ带;Ｘ染色体两臂有端位Ｃ带,Ｙ染色体是Ｃ带阳性和晚复制的。Ａｇ－ＮＯＲｓ的数目,雌体有４个,雄体有５个,Ｙ染色体上具ＮＯＲ。本文对白颊长臂猿与其它长臂猿间的亲缘关系、核型进化的可能途径进行了讨论。     

A long unidentifiable extra chromosomal segment--a possible duplication of human 7q

Limitation of current techniques in identifying extra chromosomal segments arising de novo is illustrated by a putative case of a duplication of the long arm of chromosome 7. The propositus, demonstrating multiple congenital anomalies and severe mental retardation, had a large extra segment of chromatin on chromosome 7q that was absent in his parents. The banding pattern of this segment resembled that of the long arm of chromosomes 7, 8, or 9. Various procedures indicated that the additional material did not include the secondary constriction of 9q. The phenotype of the propositus did not fit well with that of trisomy 8.     

穗花杉染色体的研究

穗花杉为国家三级重点保护的珍稀濒危植物,雌雄异株。根尖细胞染色体分析表明：雌株和雄株的染色体数目为２ｎ＝４０,其中第１对和第２对为中部着丝粒染色体,第３－２０对为端部着丝粒染色体。核型为２ｎ＝４０＝４ｍ＋３６Ｔ。雌雄株除第２对的长度稍有差异外,其余各对的相对长度和臂比都较近似,可能尚无性染色体分化。Ｇｉｅｍｓａ Ｃ带显示,间期核有３个较大的染色中心,最长的３条染色体的中央缢痕有深染色带纹,可能是着     

Karyotypes, chromosome bands and genome size variation in New Zealand endemic gymnosperms

Karyotype studies on 20 taxa of gymnosperms endemic to New Zealand show a wide diversity of chromosome number and form. Fluorochrome banding with DAPI and CMA reveals a depauperate pattern of bands with CMA and no reliable banding with DAPI. Characteristically one pair of chromosomes shows a prominent CMA band, which may or may not be associated with a secondary constriction. A band size polymorphism was observed in all plants ofDacrycarpus dacrydioides, irrespective of the sex of the plant. Measurements of genome size by flow cytometry show a range of values from 12.3 pg to 40.0 pg DNA per 2C nucleus. Intraspecific variation in genome size was observed inManoao colensoi.     

染色体多态性与临床效应及生殖关系的探究

为了探讨人类染色体结构多态性与生殖异常临床效应的关系,按常规技术方法制备外周血淋巴细胞染色体,经G、C显带,对1 414例遗传咨询者进行核型分析,检出异常核型273例。其中多态性变异180例,占65.93%,非多态性异常核型93例,占34.07％。多态性变异包括D、G组短臂增长10例,次缢痕增长(包括1、9和16号染色体)35例,大Y染色体和小Y染色体 99例,Y染色体臂间倒位6例,9号染色体臂间倒位30例。结果表明,人类染色体多态性与流产、不孕不育、死胎、生育畸形儿等有相关性。     

Polymorphic karyotypes and sex chromosomes in the tufted deer (Elaphodus cephalophus): cytogenetic studies and analyses of sex chromosome-linked genes

Different diploid chromosome numbers have been reported for the tufted deer Elaphodus cephalophus (female, 2n = 46/47; male, 2n = 47/48) in earlier reports. In the present study, chromosomal analysis of seven tufted deer (5 male symbol, 2 female symbol) revealed that the karyotype of these animals contains 48 chromosomes, including a pair of large heteromorphic chromosomes in the male. C-banding revealed these chromosomes to be very rich in constitutive heterochromatin. Chromosome banding and PCR of sex chromosome-linked genes (SRY, ZFX, ZFY) performed on DOP-PCR products of single microdissected X and Y chromosomes confirmed that the large telocentric chromosome without secondary constriction is the X chromosome whereas the subtelocentric chromosome is the Y. The increased size of both, the X and Y chromosome, appears to be at least partially attributable to the presence of substantial amounts of heterochromatin.     

小熊猫染色体异染色质的显示

以培养的小熊猫外周淋巴细胞为实验材料,结合Ｃ－显带技术及ＣＭＡ３／ＤＡ／ＤＡＰＩ三竽荧光杂色的方法,对小熊猫的染色体组型、Ｃ－带带型及ＣＭＡ３／ＤＡ／ＤＡＰＩ荧光带带型进行了研究,发现：（１）经Ｃ－显带技术处理,可在小熊猫染色体上呈现出一种极为独特的Ｃ－带带型。在多数染色体上可见到丰富的插入Ｃ－带及端粒Ｃ－带。而着丝区仅显示弱阳性Ｃ－带;（２）除着丝粒区外,ＣＭＡ３诱导的大多数强荧光带纹与Ｃ－阳性     

The karyotype of Adenomera diptyx (Boettger 1885) (Anura, Leptodactylidae) from northeastern Argentina

In this work we analyzed the karyotype of five populations of Adenomera diptyx from Argentina after conventional staining, Ag-NOR and C-banding. All specimens presented 2n = 26 and FN = 34. The karyotype was formed by three submetacentric, one metacentric and nine telocentric pairs. Silver staining revealed that the NOR was located on a secondary constriction in pair 7. C- banding evidenced constitutive heterochromatin at the pericentromeric region of all chromosomes. The karyotype of A. diptyx was similar to that of A. hylaedactyla (2n = 26, FN = 34) and different from that of A. andreae (2n = 26, FN = 40) in the fundamental number and secondary constriction position. It also differed from the karyotypes of A. marmorata (2n = 24, FN = 34 and 36) and of A. aff. bokermanni (2n = 23, FN = 34) in diploid number. Until a comprehensive cytogenetic analysis of all the species of the genus is performed, their chromosome evolution will remain poorly understood.     

江苏櫓稻核型的初步分析

本文研究了江苏穭稻——一种草型栽培稻(Orysa sativa L.)的核型与染色体带型。结果表明,穭稻的核型有6对中位染色体(K_1,K_3,K_6,K,K(?)和K_(11)),4对亚中位染色体(K_2,K(?)K_0和K(?)),1对亚端位染色体(K_4)和1对随体染色体(K_(10)),在K_3染色体的长臂上有一次缢痕。Giemsa分带处理表明,穭稻染色体带型比较丰富,各条染色体的带型特征明显。本文还讨论了江苏穭稻与普通野生稻和栽培稻在核型及染色体带型上的异同。     

Banded chromosomes of the owl monkey, Aotus trivirgatus.

Chromosomes of the owl monkey, Aotus trivirgatus, with 2n=54, 53, or 52, have been stained to show quinacrine (Q-) and Giemsa (G-) bands, and a karyotypic arrangement has been proposed based on lengths, centrometric index, and banding pattern. C-bands were present at the centromeric region of every chromosome and over the entire short arm of certain acrocentric chromosomes; 5-methylcytosine was concentrated in the same regions. Bright Q-bands at the telomeric ends of the short arms of some chromosomes probably represent a second type of repetitive DNA. Ag-staining showed that only the chromosomes bearing a secondary constriction are nucleolus organizer chromosomes.     

Banding of human chromosomes with basic fuchsin

Summary In this paper a technique is described for the banding of human metaphase chromosomes with basic fuchsin. The main characteristics of the G-banding pattern obtained with this cationic triphenylmethane dye are:the secondary constriction regions of chromosomes Nos. 1 and 16 are strongly stained, especially in the latter one;the heterochromatic area of chromosome No. 9, usually negative with most other G-banding techniques, is clearly visible as an intensely stained band adjacent to the centromere;the chromosomal outline is often very distinct, facilitating the study of the telomeres; a number of chromosomal regions with bright Q fluorescence such as the polymorphic regions of the chromosomes Nos. 3, 4, and Y also stain strongly with basic fuchsin.The basic fuchsin technique combines therefore properties of G-, C-, and Q-banding methods and seems very suitable for use in e.g., family and linkage studies.Several triphenylmethanes closely related to basic fuchsin produce similar banding patterns. The band-producing ability is, however, diminished in those dyes which contain methylated amino groups. If the methyl groups are attached to the carbon atoms at the 3-positions in the phenyl rings, band formation seems unaffected.The way in which basic fuchsin and chromatin may interact as well as the possible mechanism(s) of band formation with this dye are discussed.     

The importance of further cytogenetic and molecular investigation of acrocentric variants: justification by presentation of a case [t(8;14)(q24;p11)]

Summary On routine chromosome analysis a moderately retarded 18-year old man was found to have an unusual short arm on one chromosome 14. With GTL-banding this chromosome showed an enlarged short arm with no evident secondary constriction. Negative CBG-banding of the short arm suggested the possibility of a translocation involving euchromatin. Interpretation of the abnormality as an unbalanced translocation relied on chromosome analysis using GTL-, CBG-, and Ag-NOR-banding of the proband's phenotypically normal mother, who was found to be carrying a balanced translocation involving chromosomes 8 and 14. In situ hybridization of sequences known to map to the short arm of chromosome 14 confirmed the interpretation and established that the breakpoint was within p11. The patient, whose karyotype is 46,XY,-14,+der(14)t(8;14)(q24.1;p11), is trisomic for the terminal end of the long arm of chromosome 8. The patient's clinical features are described and compared with those reported in patients trisomie for this region. This study demonstrates the importance of using a number of different banding techniques in conjunction with in situ hybridization for the investigation of morphologically unusual acrocentric short arm variants seen at routine diagnosis.     

Partial inversion of the secondary constriction of chromosome 9. Does it exist?

Summary Pericentric inversion of chromosome 9, a common abnormality, has been much studied because of its possible genetic effect. Apart from total inversion, in which the whole heterochromatic segment of chromosome 9 appears to be situated on the short arm, some authors describe partial inversion, in which the heterochromatin is found partly on the long arm and partly on the short arm.Our study indicates that firstly, the heterochromatic segment of chromosome 9 is composed of two biochemically different subunits: the heterochromatin of the centromere itself and the heterochromatin of the secondary constriction. Secondly, it suggests that partial inversion of the secondary constriction of chromosome 9 is an unusual event, as the majority of published cases can be interpreted as the result of an increase in the centromeric heterochromatin without alteration of the secondary constriction.Supported by grants from INSERM (A.T.P. 79-110)     

云南三种齿蟾的细胞遗传学研究(锄足蟾科Pelobatidae,无尾目Anura)

本文报道了分布在云南的3种齿蟾(乡城齿蟾、景东齿蟾和棘疣齿蟾)的核型、Ag-NORs和C-带,结果表明2n=26(6+7).NF=52,一对次缢痕和Ag-NORs位于6 q,该区域同时被C-带正染,其余C-带位于各对染色体的着丝点区域。这些特征表现出3种齿蟾的核型同源性和原始性。齿蟾属内种间各对应染色体对在相对长度和臂比值的差异显著性测定表明其核型演化途径可能是臂间倒位和相互易位。3种齿蟾具有染色体数目和Ag-NORs的变异和异形现象,其中乡城齿蟾的一个多余染色体呈现C-带正染,因此可能是B染色体,是锄足蟾科中首次报道。三种齿蟾均未发现与性别相关的异形染色体。     

Preferential breakage of sensitive regions of human chromosomes

Summary Whilst studying the chromosomes of the peripheral blood lymphocytes of normal controls and patients with lymphoproliferative disorders, two examples of preferential breakage of a sensitive chromosomal region were found. A patient with lymphocytic lymphoma had a sensitive region in a C9 chromosome coinciding with the secondary constriction. A healthy woman had one A2 chromosome showing an unusually located secondary constriction in which breakage sometimes occurred.