凌云重楼中B染色体起源的探讨

对同一居群不同个体的凌云重楼(Paris cronquistii)的染色体进行了观察,发现核型结构和B染色体有一系列的变异。据此,作者对其B染色体的起源进行了分析,认为凌云重楼的B染色体是随体在次缢痕处断离后衍生。     

Schistosoma mansoni: chromosomal localization of DNA repeat elements by in situ hybridization using biotinylated DNA probes

Localization of the SM alpha family of repeated DNA and the rDNA repeat on the chromosomes of Schistosoma mansoni by in situ hybridization is presented. Biotinylated DNA was hybridized to target chromosomes and hybridization was detected using either alkaline phosphatase-labeled avidin or fluorescein-labeled avidin and biotinylated anti-avidin antibody. Hybridization detection using a fluorescein conjugate was more specific and sensitive with less background noise than detection with alkaline phosphatase conjugates. SM alpha hybridizing sequences were found dispersed throughout the genome, hybridizing to the sex chromosomes and autosomes. The SM alpha probe showed specific hybridization to the euchromatic gap region within the large heterochromatic block of the short arm of the W chromosome. This specific hybridization coupled with the lack of chiasma formation in this region of the ZW bivalent (presumably due to the heterochromatinization of this region) may explain the pattern of sex-specific hybridization reported for the SM alpha family. The rDNA repeat was localized to the secondary constriction of the short arm of chromosome 3. Specifically, the rDNA probe hybridized with the stalk of the secondary constriction and with parts of both side regions, the satellite and the short arm proper.     

石貂的染色体研究

本文对分布在我国的石貂北方亚种染色体进行了较详细的研究。结果表明２ｎ＝３８,核型为１４（Ｍ）＋４（ＳＭ）＋１８（ＳＴ）,ＸＹ（Ｍ,Ａ）。Ｃ－带显示该亚种的一些染色体着丝粒区域结构异染色质弱化或消失。Ｎｏ,９染色体的短臂完全异染色质化;Ｘ染色体长臂丰出现插入杂色质带;Ｙ为完全结构异染色质组成。     

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。     

Detection of nucleolus organizer regions in chromosomes of human,chimpanzee, gorilla,orangutan and gibbon

Nucleolus organizer regions were detected by the Ag-AS silver method in fixed metaphase chromosomes from human and primates. In the human, silver was deposited in the secondary constriction of a maximum of five pairs of acrocentric chromosomes: 13, 14, 15, 21 and 22. The chimpanzee also had five pairs of acrocentric chromosomes stained, corresponding to human numbers 13, 14, 18, 21 and 22. A gibbon had a single pair of chromosomes with a secondary constriction, which corresponded to the nucleolus organizer region. In each case the Ag-AS method detected the sites which have been shown by in situ hybridization to contain the ribosomal RNA genes. An orangutan had eight pairs of acrocentric chromosomes stained with Ag-AS, probably corresponding to human numbers 13, 14, 15, 18, 21 and 22, plus two others. Two gorillas had silver stain over two pairs of small acrocentric chromosomes and at the telomere of one chromosome 1. The larger gorilla acrocentric chromosomes had no silver stain although they all had secondary constrictions and entered into satellite associations.     

Free trisomy 9P in elderly woman.

The karyotype 47,XX,+9p was observed in a 50-year-old mentally retarded woman with dysmorphic facies, severe cerebral malformations, limb deformities, retarded sexual maturation and deviating dermatoglyphs. Banding analysis showed the extra chromosome to be composed of 9p and the proximal part of 9q comprising a large secondary constriction. The breakage point is estimated as 9q13. Hemozygous large C bands were observed in both chromosomes No. 9 as well as in the extra chromosome. Clinically this case can be regarded as a pure 9p trisomy. The mechanism causing the syndrome is thought to be malsegregation of a deleted chromosome No. 9.     

Satellite DNA III and alkaline Geimsa staining.

Satellite DNA III visualized by staining chromosomes with Giemsa at pH 10-12. Evidence is presented that besides the secondary constriction of chromosome 9, satellite III contained in considerable amount in the long arms of chromosome 20, giving rise to a clearly visible secondary constriction just below the centromere. The latter finding confirms that reported by Bobrow et al. (1972). The long arms of the Y chromosome also show strong staining with alkaline Giemsa, the region of staining corresponding exactly with the intensely flourescing area. This is interpreted as possible evidence for the presence of satellite DNA III in the distal long arms of the human Y chromosome.     

Molecular hybridization to meiotic chromosomes in man reveals sequence arrangement on the no. 9 chromosome and provides clues to the nature of "parameres"

In situ hybridization of male human meiotic material has been used to elucidate the molecular organization of the centromeric region of human chromosome 9. The use of two cloned DNA sequences has shown that the centromere and the secondary constriction of this chromosome contain two separate repeated DNA families. The secondary constriction organizes into "paramere" bodies during pachytene. The individual parameres are comprised of one family of repeated DNA sequences.     

Chromosome mapping of Xenopus tropicalis using the G- and Ag-bands: tandem duplication and polyploidization of larvae heads

Developmental cytogenetic analyses of Xenopus tropicalis larvae from two origins were performed on stage 27-34 heads treated with colchicine. Standard G-band karyotyping using trypsin and chromosome mapping of 184 bands were examined. Although the main karyotype was 2n = 20, polyploidy (3n = 30 or 4n = 40) and aneuploidy were detected in each individual treated with colchicine, even those treated for only 1 h. The percentage of polyploid karyotypes was 10-20% across the total of measured metaphases. The mean mitotic index was 0.10. Chromosomal breaks and exchanges were detected at the secondary constriction of chromosomes 5 or 6. Ag-band detection showed clearly positive staining at the secondary constriction of chromosome 5, which corresponds to the nucleolar organizer region. Tandem duplication of negative G-bands at the secondary constriction of chromosome 6 and the short arm of chromosome 10 was suggested by this study. X. tropicalis thus provides a good model to study the mechanism and effects of chromosomal abnormalities, gene mapping and tissue specific gene expression in the developmental process.     

大蹄蝠的核型分析

研究了大蹄蝠的核型、C-带和Ag-NORs。大蹄蝠的染色体数目是2n=32,NF=60,No.8染色体上有一明显的次缢痕,大蹄蝠有丰富的结构异染色质,主要以着丝粒带的形式存在;且有若干对染色体部分或全部异染色质化;一对Ag-NORs稳定地出现于No.8染色体。     

Molecular cytogenetic characterization of breakpoints involving pericentric inversions of human chromosome 9

Pericentric inversions involving the secondary constriction (qh) region of chromosome 9 are considered to be normal variants. The evolutionary mechanisms and conservation of these inversions via Mendelian fashion have been investigated since the advent of banding techniques. Routine cytogenetic techniques cannot provide the fine characterization necessary to determine the type of genetic material involved in these rearrangements. Therefore, the fluorescence in situ hybridization technique with the human centromere-specific alpha satellite and the beta satellite (D9Z5) and classical satellite (D9Z1) human DNA probes were used to identify the breakpoints of chromosome 9 pericentric inversions. Four unique types of pericentric inversions involving the 9qh region were observed, and the mechanism may be due to breakage and reunion at the proposed breakpoints. They are: type A inversions consist of breakpoints within the alpha and beta satellite DNA regions; type B consist of breakpoints within the beta satellite DNA region and band 9q13; type C involve breakage within the beta and classical satellite DNA regions, and type D have breakpoints within the alpha and classical satellite DNA regions. Obviously, reshuffling of satellite DNA sequences has occurred, which has given rise to a variety of heteromorphisms whose clinical significance remains obscure. Received: 21 December 1995 / Revised: 30 May 1996     

Cytogenetic studies of Aotus from Eastern Amazonia. Y/Autosome rearrangement

Twenty-one specimens of Aotus were captured on both sides of the Tocantins river when the hydroelectric reservoir of Tucuruí, Brazil, was filled. The males had a diploid number of 49 chromosomes, and the females had 50. The observed difference is a consequence of the fusion of the Y chromosome with an autosome. The karyotype is similar to that of the Bolivian Aotus (A. azarae boliviensis). It differs, however, in the G- and C-banding patterns of the chromosome resulting from the Y/autosome fusion. The nucleolar organizing region is located on the secondary constriction of a pair of submetacentric chromosomes. Considerations are presented on the classification of A. infulatus as a separate species.     

Localization of rDNA and giemsa-banded chromosome complement of white-handed gibbon,Hylobates lar

A karyotype based on banding pattern and chromosome length is presented for the white-handed gibbon, Hylobates lar. Little homology with the banding patterns of the chromosomes of the other Hominoidea can be seen, confirming the early evolutionary separation of Hylobatidae and the other apes. Hybridization in situ with ribosomal RNA shows that the secondary constriction of a submetacentric chromosome (15) is the only site of the nucleolar organizer, as in the Cercopithecoidea. The correlation of polymorphic variation in size of this secondary constriction with grain density suggests differences in the number of gene copies per chromosome.     

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)     

A cytogenetic survey of 110 baboons (Papio cynocephalus)

A cytogenetic investigation of 110 adult baboons (Papio cynocephalus) captured in Kenya and sacrificed at the Institut Pasteur, Paris, showed the absence of anomalies, numerical or structural bearing on nonheterochromatic material; a polymorphism of the AgNOR-positive secondary constriction of chromosome 5 in 12% of the animals; a polymorphism of a secondary constriction of chromosome 7 in 2% of the animals; a fragile site of chromosome 6 in one animal. We believe that our data show that cytogenetic observations in present day primates probably reflect their chromosomal evolution.     

颈棱蛇核型和Ag－NORs的研究

本文研究了云南产颈棱蛇的核型和Ａｇ－ＮＯＲｓ。其Ｚｎ＝４６,由８对大染色体和１５对小染色体组成,大染色体中Ｎｏ．６、８为亚中着丝粒染色体,其余均为端或亚端着丝粒染色体。在Ｎｏ．２的末端有一明显的次缢痕,常常只在一条同源染色体上可见。第４对大型染色体为性染色体,雌性为ＺＷ型,其中Ｚ染色体较大,而Ｗ染色体长度仅为Ｚ染色体的三分之二。一对核仁组织者（ＮＯＲｓ）位于Ｎｏ．２末端,其位置与次缢痕位置相对应。文中还对颈棱蛇的分类和进化进行了讨论。     

A cytogenetic study on congenital limb malformations in the Japanese monkey (Macaca fuscata)

A cytogenetic investigation was performed on 88 Japanese monkeys (Macaca fuscata) with abnormal limbs from 11 free-ranging provisioned troops including nine individuals with abnormalities indistinguishable as to whether they were congenital or injurious. All of the monkeys with abnormal limbs including the nine questionable individuals had the same karyotypes as those of normal individuals. The chromosome number was 42, consisting of 20 bi-arm autosome pairs and a submetacentric X-chromosome and Y-chromosome. The ninth chromosome pair, which was the only chromosome pair with remarkable secondary constriction, displayed length polymorphism of the centromeric C-band and secondary constriction in both deformed and normal monkeys. These kinds of variants have also been commonly found in other monkey species, which have almost the same karyotype as the Japanese monkey and have not been reported to show frequent occurrence of limb malformation. We concluded therefore that chromosomal abnormalities could be excluded from the main causal factors for limb malformations of the Japanese monkey.     

Role of heterochromatin during preferential 9q;22q translocation in chronic myelogenous leukemia

The secondary constriction region (h) of human chromosome 9 was evaluated in 55 chronic myelogenous leukemia (CML) patients with respect to its size and position. Each case was examined by C-banding and distamycin A-4,6-diamidino-2-phenylindole techniques for the expression of the h regions. When one h region of chromosome 9 was larger, it was more frequently involved in the reciprocal translocation with chromosome 22. In addition, there was a higher incidence of pericentric inversions in the h regions in the translocated chromosome 9 when compared with normal homologues. The role of the constitutive heterochromatin of chromosome 9 as a possible influencing factor during 9q;22q translocation in CML is suggested.     

45S rDNA在小麦及其近缘物种染色体上的分布

将染色体C-分带和原位杂交技术相结合,系统研究了45S rDNA在栽培一粒小麦、野生二粒小麦、普通小麦、大麦、簇毛麦、硬簇麦、六倍体燕麦及鹅观草等物种染色体上的分布情况。这些物种染色体的次缢痕区都有45S rDNA位点, 某些非随体染色体上也有45S rDNA位点分布。以小麦—鹅观草1Rk^#1二体附加系为材料,通过顺序C分带-FISH技术首次将一个45S rDNA定位到1Rk^#1染色体短臂末端。     

Effects of chromosome reconstruction on deletion clustering in Hordeum vulgare

Summary The barley standard karyotype, two reconstructed karyotypes with all chromosomes interdistinguishable, and four translocation lines were treated with maleic hydrazide. A specific chromosomal site in satellite chromosome 7 (segment 44 adjacent to the nucleolus organizer region) of the standard karyotype was found to represent a deletion hot spot. A sample of specifically reconstructed karyotypes were used to check whether or not transposition of the hot spot region, or changes of its neighborhood, would affect its involvement in deletions. One of the seven karyotypes (translocation line T 505 with a pair of chromosomes having both nucleolus organizer regions and satellites in opposite arms) was without deletion clustering in segment 44. At the same time, a prominent Giemsa band close to the secondary constriction was absent from segment 44. These data show that the involvement in deletions of a certain chromosome segment is modifiable in certain cases by chromosome reconstruction. Similar observations have been made in Vicia faba.