Showing papers on "Karyotype published in 1971"
4,888 citations
TL;DR: It seems probable, therefore, that the darker staining with Giemsa of these regions, after denaturation and annealing, indicates the presence of highly repetitive DNA.
Abstract: A GIEMSA staining procedure that preferentially stains centromeric heterochromatin in mouse chromosomes has been described1. This specificity was observed when fixed preparations were treated with sodium hydroxide to denature the DNA, and then incubated in warm saline to allow annealing, in the presence of 3H-labelled single stranded satellite DNA or its complementary RNA. In this way mouse satellite DNA was located in the centromeric heterochromatin1,2. It is known to consist of highly repetitive sequences3 and to anneal much more rapidly than non-repetitive DNA4. It seems probable, therefore, that the darker staining with Giemsa of these regions, after denaturation and annealing, indicates the presence of highly repetitive DNA.
1,140 citations
TL;DR: This method, which is based on treatment of the chromosomes in situ with NaOH, followed by incubation in sodium chloride-trisodium citrate and Giemsa staining, results in highly specific banding patterns in characteristic regions of the chromosome arms.
Abstract: Individual pairs of human chromosomes can be reliably identified by a new method that does not require special optical equipment and that results in permanent preparations. This method, which is based on treatment of the chromosomes in situ with NaOH, followed by incubation in sodium chloride-trisodium citrate and Giemsa staining, results in highly specific banding patterns in characteristic regions of the chromosome arms. It should prove useful for the detection of small structural changes in chromosomes.
262 citations
TL;DR: Differential staining of human chromosomes can be obtained when the pH of Giemsa stain is changed to 9.0 from the usual 6.8, and identification of homologs is also easier than in cells stained by the latter.
Abstract: Differential staining of human chromosomes can be obtained when the pH of Giemsa stain is changed to 9.0 from the usual 6.8. Such staining permits identification of all homolog pairs and distinct regions within chromosome arms. In most instances, the pattern is quite similar to that obtained with quinacrine mustard fluorescence staining. Certain regions, such as the paracentric constrictions in chromosomes Al and C9, and the distal end of the long arm of the Y chromosome stain differently with the Giemsa 9 technique. The technique is considerably simpler than the quinacrine mustard fluorescence technique and identification of homologs is also easier than in cells stained by the latter.
170 citations
TL;DR: Two auxin-heterotrophic callus cultures of Crepis capillaris were studied and it has been found that new karyotypes also originate through chromosome rearrangements at the same ploidy level as the original explant.
Abstract: Two auxin-heterotrophic callus cultures of Crepis capillaris, one coming from an haploid plant and the other from a diploid one, were studied in regard to karyotypic changes for over a year. The degree of polyploidisation of the originally haploid culture was considerably higher than that of the diploid culture. The frequency of chromosome rearrangements was significantly higher in polyploidised karyotypes than in not polyploidised karyotypes and correspondingly greater in the “haploid” culture. However, the cytogenetical stability of the cultures cannot be measured only through their degree of polyploidisation: it has been found that new karyotypes also originate through chromosome rearrangements at the same ploidy level as the original explant.
165 citations
TL;DR: Human leukemic cells with a marker (Philadelphia; Ph1) chromosome gave rise to granulocytic and mononuclear cell colonies when grown in vitro, suggesting that leukeMIC and normal cells exist simultaneously and that in vitro colonies are clonal in origin.
Abstract: Human leukemic cells with a marker (Philadelphia; Ph(1)) chromosome gave rise to granulocytic and mononuclear cell colonies when grown in vitro. All metaphases from a single colony were either Ph(1) positive or Ph(1) negative. No colonies contained a mixed cell population. This suggests that leukemic and normal cells exist simultaneously and that in vitro colonies are clonal in origin.
151 citations
TL;DR: Seven polymorphic regions on normal chromosomes are described, which include four identified by fluorescence on chromosomes 3,4, 13, and 22, which make it possible to detect small differences in size between the heterochromatic blocks at these regions in homologous chromosomes.
Abstract: The similarities and differences between the banding patterns obtained in human chromosomes with the Quinacrine fluorescence and the Acetic-Saline-Giemsa (ASG) techniques are described. The use of these techniques to identify each chromosome pair in the human karyotype is discussed, as also is the use of the methods to identify aberrant chromosomes and to map points of exchange in translocations and inversions. A number of examples are used to illustrate the resolution permitted by these new methods. Seven polymorphic regions on normal chromosomes are described, which include four identified by fluorescence on chromosomes 3,4, 13, and 22. The secondary constrictions on chromosomes 1, 9, and 16, which had previously been observed in conventionally stained preparations from favourable material, are particularly clear in all cells treated with the Giemsa techniques. The new methods make it possible to detect small differences in size between the heterochromatic blocks at these regions in homologous chromosomes. The benefit to human genetics of studying the familial segregation of both structurally rearranged and normal, but polymorphic chromosomes, where the chromosomes or parts of chromosomes can be unambiguously identified is stressed.
149 citations
TL;DR: A characteristic banding pattern can be made visible in human chromosomes by a denaturating and renaturating procedure performed on cytological preparations, allowing easy identification of all human chromosomes.
Abstract: A characteristic banding pattern can be made visible in human chromosomes by a denaturating and renaturating procedure performed on cytological preparations. The banding pattern is characteristic of each chromosome pair, allowing easy identification of all human chromosomes. The method is likely to provide a useful tool in the identification of mammalian chromosomes and in the study of aberrations and variations in the chromosome set.
126 citations
TL;DR: It is postulated that polymorphisms in the centric heterochromatin may account largely for small heritable chromosome length variations previously described in human populations and termed minor chromosome variants.
Abstract: Constitutive heterochromatin of chromosomes can be visualized utilizing a new differential staining technique which was originally developed by Gall and Pardue (1971). The method facilitates the more certain identification of specific chromosomes within and between cell populations of different origins. Marker chromosomes can be identified in established cell lines over many months of serial passage. Chromosomes of similar morphology within karyotypes of man and mouse can be distinguished in a number of instances. For example, the Y chromosomes of both mouse and man can now be easily detected. The hetero-chromatic staining method also permits discrimination between mouse and human chromosomes in somatic cell hybrids, thus facilitating the assignment of gene markers to chromosomes in somatic cell genetics systems. Instances of translocation of centric heterochromatin to other parts of chromosomes in established tissue culture cell lines are described. An instance of the inheritance of a polymorphic variation in autosomal heterochromatin in man is reported. It is postulated that polymorphisms in the centric heterochromatin may account largely for small heritable chromosome length variations previously described in human populations and termed minor chromosome variants.
116 citations
TL;DR: Interspecific hybridization between these two species reveals that chromosome stable hybrids are only obtained when the genomes are present in a ratio of 1 vulgare∶2 bulbosum, and is taken as evidence of homoeologous pairing between the chromosomes of the two species.
Abstract: Interrelationships between H. vulgare (2x=14) and H. bulbosum (2x=14; 4x=28) were estimated on the basis of the karyotypes and the pairing behaviour of the chromosomes in diploid, triploid and tetraploid hybrids obtained with the aid of embryo culture. — A comparison of the karyotypes of the two species revealed similarities as well as differences. It was concluded that at least 4 or more of the chromosomes were similar in morphology and probably closely related. — Diploid and tetraploid hybrids are rarely obtained and their chromosome numbers tend to be unstable whereas triploid hybrids (1 vulgare + 2 bulbosum genomes) were stable and relatively easy to produce. In the diploid hybrid only 40% of the meiotic cells contained 14 chromosomes while the numbers ranged from 7 to 16 in other cells. All hybrids exhibited pairing between the chromosomes of the two species. Diploid hybrids had a mean of 5.0 and a maximum of 7 bivalents per cell in those cells having 14 chromosomes. Triploid hybrids from crosses between 2x H. vulgare and 4x H. bulbosum exhibited a mean of 1.5 and a maximum of 5 trivalents per cell. In a hexaploid sector found following colchicine treatment of a triploid the mean frequencies of chromosome associations per cell were: 5.5I+8.0II+0.7III+3.7IV+0.3V+0.4VI. One unstable 27 chromosome hybrid obtained from crosses between the autotetraploid forms had a mean of 1.1 and a maximum of 4 quadrivalents per cell. The chromosome associations observed in these hybrids are consistent and are taken as evidence of homoeologous pairing between the chromosomes of the two species. Interspecific hybridization between these two species also reveals that chromosome stable hybrids are only obtained when the genomes are present in a ratio of 1 vulgare∶2 bulbosum. Based upon the results obtained, the possibility of transferring genetic characters from H. bulbosum into cultivated barley is discussed.
87 citations
TL;DR: A karyotype of the mitotic chromosomes of the house mouse has been prepared based upon quinacrine fluorescence patterns and the tentative assignments of autosomal linkage groups (LG) to chromosomes as follows.
Abstract: A karyotype of the mitotic chromosomes of the house mouse has been prepared based upon quinacrine fluorescence patterns. All 19 pairs of autosomes and the X and Y chromosomes have been identified. Examination of the chromosomes of the following translocation stocks, T(11;?)1Ald, T(3;?)6Ca, T(2;9)138Ca, T(2;12)163H, and T(9;13)190Ca, have led to the tentative assignments of autosomal linkage groups (LG) to chromosomes as follows: LGII to chromosome number 10 (or 13), LGIII to 12 or 15, LGIX to 16, LGXI to 6, LGXII to 19 and LGXIII to 1. By definition, LGXX is on the X chromosome.
TL;DR: Thirty abortuses with triploidy or hypertriploidsy and 7 with tetraploids form the subjects of this paper and have not been published in detail but one aspect of their phenotype has been discussed elsewhere (Carr, 1969).
Abstract: Cytogenetics was founded in the cytological and genetical study of plants and insects. The observation of mammalian chromosomes goes back to the 1880s but techniques which make counting accurate have been devised only in the last 15 years. In the dozen years since the first chromosome anomalies in man were described, almost every known type of disorder has been reported either in living subjects or in abortuses. The reaction of the organism to chromosome disorders varies somewhat between the plant and animal kingdoms as well as among different animal classes. However, there are some general principles which apply to all living organisms: (1) The presence of one additional autosome, resembling a regular member of the complement, interferes with normal development; (2) The degree of abnormality varies with the chromosome involved; (3) The loss of one chromosome has a more serious effect on development than the presence of the same element in excess; (4) The presence of whole extra sets of chromosomes (polyploidy) has different effects on the plant and animal kingdoms and among the members of the latter; (5) In general, polyploidy is well tolerated in plants and invertebrate animals. Among the vertebrates, there is considerable difference between classes. In man and other mammals polyploidy appears to be lethal or sublethal. Thirty abortuses with triploidy or hypertriploidy and 7 with tetraploidy form the subjects of this paper. They have not previously been published in detail but one aspect of their phenotype has been discussed elsewhere (Carr, 1969). The numbers used in this publication are the same as those used for the 9 specimens included in the latter paper.
Journal Article•
TL;DR: A 4 year old girl with physical and mental retardation but few other abnormalities was found to have an unbalanced karyotype, 47,XX,6-,t(6q,20p?)+,t(14q,6q)+, resulting in partial trisomy-14.
Abstract: A 4 year old girl with physical and mental retardation but few other abnormalities was found to have an unbalanced karyotype, 47,XX,6-,t(6q,20p?)+,t(14q,6q)+, resulting in partial trisomy-14. This arose by aberrant segregation of chromosomes during meiosis in her mother, who has a complex translocation involving chromosomes 6, 14 and 20.
TL;DR: Infection of primary human embryo kidney cells with adenovirus types 2, 7, 12, 18 and 31, at a multiplicity of infection of 2, resulted in the induction of chromosome aberrations in metaphases examined 24 hr after infection.
Abstract: Summary
Infection of primary human embryo kidney cells with adenovirus types 2, 7, 12, 18 and 31, at a multiplicity of infection of 2, resulted in the induction of chromosome aberrations in metaphases examined 24 hr after infection. The aberrations induced by types 2 and 7 were randomly distributed over the karyotype, but types 12 and 31, and to a lesser extent type 18, all induced non-random effects. Both type 12 and type 31 produced chromatid and isochromatid gaps and breaks at a specific site on chromosome no. 17.
TL;DR: The chromosomes of the killifish1–3 family Cyprinodontidae are being studied in many laboratories and the karyotypes of forty-eight of the approximately eighty-five species of North American killifishes have so far been determined, twenty-seven of them by us.
Abstract: THE chromosomes of the killifish1–3 family Cyprinodontidae are being studied in many laboratories and the karyotypes of forty-eight of the approximately eighty-five species of North American killifishes have so far been determined (refs. 2 and 3 and our unpublished results), twenty-seven of them by us. All but three of the fifteen or sixteen North American genera of the family have been studied, and of the largest genera, Fundulus (twenty-nine species) and Cyprinodon (about twenty species), twenty-two and thirteen species, respectively, have been karyotyped. The diploid chromosome number of American killifishes is usually 48. The known exceptions are species of the genus Fundulus3,4 and Lucania parva (46), L. interioris (36) and Adinia xenica (32). The latter three species have large metacentric chromosomes indicating centric fusions; they can be enumerated by subtracting the total number of chromosomes from 48. For example, Adinia has sixteen large metacentrics, the thirty-two chromosomes being subtracted from 48.
TL;DR: Female karyotypes from ovarian cell cultures of 20 species of killifish (Fundulus) ranged in diploid number from 32 to 48, but in arm number (NF) from 48 to 52, indicating Robertsonian changes by the centric fusion of two A's to form one L chromosome.
Abstract: Female karyotypes from ovarian cell cultures of 20 species of killifish (Fundulus) ranged in diploid number from 32 to 48, but in arm number (NF) from 48 to 52. The “small” F chromosomes, which constituted the fundamental elements in the karyotype, were evenly graded in length. The “large” biarmed chromosomes (L), which were about twice the length of the average Fs, characterized only those species with 2N less than 48 chromosomes. And among these species, an increase in complement by a pair of L's was always accompanied by a decrease of two pairs of A's, indicating Robertsonian changes by the centric fusion of two A's to form one L chromosome. Other diagnostic chromosome characters included: the number and structure of biarmed and satellited F chromosomes and the percentage of F's with relatively short short-arms (SSA). Besides centric fusion, mechanisms of chromosomal evolution in Fundulus probably included pericentric inversion, producing biarmed F chromosomes from acrocentric F's and partial loss of a chromosome segment producing smaller biarmed F chromosomes from larger ones. The percentage of SSA chromosomes generally decreases from relatively primitive to specialized species. The presumably most primitive species have only SSA type acrocentric F chromosomes. The 20 Fundulus species were classified into 2 major groups according to the percentage of SSA chromosomes: the SSA group, including 3 subgroups, had more than 50% SSA's; the LSA group, including 2 subgroups, had fewer than 50% SSA's. This classification based only on karyotypic characters generally agreed with others based on gross morphological characters. A possible evolutionary scheme is proposed to account for the derived killifish karyotypes.
TL;DR: The amount of apparently spontaneous chromosome damage, the types of aberration and their distribution among the human chromosomes, based on analysis of 1468 leukocyte metaphases from 50 subjects is presented.
Abstract: Data are presented concerning the amount of apparently spontaneous chromosome damage, the types of aberration and their distribution among the human chromosomes, based on analysis of 1468 leukocyte metaphases from 50 subjects. The result was 0.046 constrictions/cell, 0.056 gaps/cell, and 0.048 breaks/cell. Clustering of damage was found in 3p, 16q and slightly in 1p and 2p, whereas the C, F and G chromosomes showed a shortage of damage.
TL;DR: Fluorescent karyotype analysis of inbred strains and a series of Fx hybrids involving C57BL/6J revealed a polymorphism, the presence or absence of a prominent secondary constriction on any of four different chromosomes, which was probably inherited in a simple Mendelian fashion.
Abstract: In the mouse, virtually every autosome pair, and the X and Y, was identified by its distinctive fluorescent banding pattern after staining with quinacrine mustard. The karyotype was characterized further by measurement of orcein-stained chromosomes and autoradiographic analysis of terminal DNA replication. The autoradiographic identification of the X and Y chromosomes was confirmed by this technique. Fluorescent karyotype analysis of inbred strains and a series of Fx hybrids involving C57BL/6J revealed a polymorphism, the presence or absence of a prominent secondary constriction on any of four different chromosomes, which was probably inherited in a simple Mendelian fashion.
TL;DR: Human and mouse chromosomes can be distinguished on the basis of different amounts of centric heterochromatin and different patterns of fluorescent banding.
Abstract: Human and mouse chromosomes can be distinguished on the basis of different amounts of centric heterochromatin and different patterns of fluorescent banding.
Journal Article•
TL;DR: Three families are reported in which the probands have clinical Down's syndrome and trisomy 21 karyotypes, whereas the phenotypically normal fathers are mosaic for trisome 21.
Abstract: The occurrence of trisomy 21 has been mostly sporadic. Familial Down's syndrome is a relatively uncommon but well-established event. Macklin in 1929 first described Down's syndrome in twins and sibships [1], and since then many familial cases with more than one affected member have been reported [2-6]. In most of these families, the affected individuals were either sibs or cousins. Initially, it was suggested that most cases of familial Down's syndrome were associated with translocations [6, 7]. However, studies done by several independent investigators in series of familial cases revealed that translocation accounted for only 20%-25% of the cases [8-11]. Furthermore, normal karyotypes were found in the peripheral leukocyte cultures derived from the parents of the familial cases of trisomy 21. Nevertheless, there have been eight known instances of trisomy 21 Down's syndrome associated with maternal trisomy 21 mosaicism ([12-17]; J. H. Turner, S. Kaplan, and J. Tomley, personal communication cited in [171; C. Jacobson, personal communication, 1970), one report of trisomy 21 mosaicism in both a father and his daughter [18], and one family in which two children have trisomy 21 mosaicism, whose parents have normal karyotypes in their leukocyte cultures [19]. This paper reports three families in which the probands have clinical Down's syndrome and trisomy 21 karyotypes, whereas the phenotypically normal fathers are mosaic for trisomy 21.
TL;DR: In this paper, the authors reported the second case of a fertile female with a 45,X karyotype and the possibility of mosaicism cannot be dismissed, although in two different tissues the karyotypes is consistently 45, X.
Abstract: We have reported the second case of a fertile female with a 45,X karyotype. The possibility of mosaicism cannot be dismissed, although in two different tissues the karyotype is consistently 45,X. Her normal daughter has a 46,XX karyotype.
Journal Article•
TL;DR: The child described in this report also has a translocation that involves the X chromosome and also displays a variety of abnormalities that are due not to a loss or gain of genetic material, but apparently to genetic inactivation.
Abstract: There have been several reports of translocations in man that involve the X chromosome. Lie et al. [1] reported a young woman with a karyotype in which a chromosomal segment of undetermined origin had been translocated to the short arm of the late-replicating X chromosome (46,XX,p+). Various abnormalities displayed by the young woman were interpreted as due to the loss of a portion of the short arm of the X involved in the translocation. Mukerjee and Burdette [2] described a child with multiple congenital abnormalities associated with a ring 3 and a late-replicating translocated 3/X chromosome (46,XX,p+,3r). The abnormalities in this case were due apparently to the loss of genetic material during the formation of the ring and the translocation, and to the subsequent instability of the ring itself. Neuhauser and Back [3] described a child with multiple abnormalities who had a translocation that involved a C group autosome and the latereplicating X chromosome (45,XX,p+,C-). The portion of the C group autosome not translocated to the X was lost, and again the abnormalities were attributed to the loss of genetic material. German [4] reported a malformed infant with a translocation involving a chromosomal segment of undetermined origin and the long arm of the late-replicating X (46,XX,q+). Her abnormalities were thought to be the result of genetic duplication. The child described in this report also has a translocation that involves the X chromosome and also displays a variety of abnormalities. Unlike the previously mentioned patients, however, she displays abnormalities that are due not to a loss or gain of genetic material, but apparently to genetic inactivation.
TL;DR: A denaturating and renaturating technique, applied to mouse chromosomes, makes visible characteristic banding patterns by which all elements of the karyotype can be individually distinguished.
Abstract: A denaturating and renaturating technique, applied to mouse chromosomes, makes visible characteristic banding patterns by which all elements of the karyotype can be individually distinguished. The Y chromosome as a whole appears darkly stained. The X chromosome comprises 6.33% of the homogametic haploid set. The banding pattern of the chromosomes is compared with that obtained by aid of the quinacrine dihydrochloride fluorescence technique. After its use a banding pattern results which is similar to, but less distinct than, that found after the renaturation procedure.
TL;DR: The karyotype and the pattern of heterochromatin distribution were analysed in normal and transformed cells from the African green monkey and extra bands of interstitial or terminal heterochromaatin were found in 6 chromosomes of the set.
01 Feb 1971
TL;DR: Bimodality and permanent anorthoploidy inOnosma are compared with similar phenomena in other plant species.
Abstract: This study is concerned with the karyology ofOnosma, and partly with related morphological and taxonomical problems. 24 species and subspecies, and l new hybrid have been considered. New or corrected chromosome numbers as well as new combinations and emendations are shown on the table p. 229. Some species have large (L-) and small (K-) chromosomes, some, additional B-chromosomes. Aberrant pairing in PMC meiosis is indicated by Roman numbers.
TL;DR: The karyotypic variation of a cell line (KC) established from primary cultures of embryonic cells of Drosophila melanogaster was studied and polymorphism in this cell population can be explained as a result of different mechanisms, including hybridization between different cell types.
Abstract: The karyotypic variation of a cell line (K
C
) established from primary cultures of embryonic cells of Drosophila melanogaster was studied. Aneuploidy and structural rearrangements were found consisting mainly in: 1) loss of one of the chromosomes of the IV pair, 2) presence of a heterochromatic centric fragment (Y ?), 3) enlargement of the heterochromatic portion of one X, 4) shortening of an arm of one element of the two large autosome pairs. Moreover, the presence of tetraploid cells (3–12%) was noticed. The polymorphism in this cell population can be explained as a result of different mechanisms, including hybridization between different cell types. Replication of DNA was studied by autoradiography with special reference to the timing of replication of heterochromatin.
TL;DR: It is suggested that most of the heterochromatin disclosed by the DNA d-r method is formed by repetitious DNA; and that the Y chromosome and perhaps some autosome regions in guinea pigs are formed by a type of heterochromeatin with properties different from those of the constitutive and facultative heterochROMatin.
Abstract: The chromosome complement and patterns of heterochromatin distribution (as demonstrated by the DNA d-r method) were studied from three different guinea pigs. Karyotype analyses showed that one of the females had a heteromorphic sex pair formed by a submetacentric X chromosome and a subterminal X chromosome originated by a shortening of the short arm (x-chromosome). The heterochromatin was mainly found in the pericentromeric areas of the autosomes and X chromosomes and in the short arm of pair 7. The Y chromosome exhibited a degree of heterochromatinization different from that of pericentromeric areas.—The analysis of the heterochromatin distribution in the X chromosomes showed that the smaller size of the heteromorphic x-chromosoine was probably due to a lack of heterochromatin in its short arm. Moreover, two out of the three animals studied had a heteromorphic pattern of heterochromatinization in the pair 21 characterized by heterochromatinization of the pericentromeric area in one chromosome and almost complete heterochromatinization of the other homologue.—It is suggested that most of the heterochromatin disclosed by the DNA d-r method is formed by repetitious DNA; and that the Y chromosome and perhaps some autosome regions in guinea pigs are formed by a type of heterochromatin with properties different from those of the constitutive and facultative heterochromatin (intermediate heterochromatin).
TL;DR: The published chromosome numbers for 208 temperate and tropical freshwater fishes have been compiled in alphabetical order within the families to facilitate the work for ichthyologists interested in the karyotype(s) of a particular species, genus or family.
Abstract: The published chromosome numbers for 208 temperate and tropical freshwater fishes have been compiled in alphabetical order within the families. This facilitates the work for ichthyologists interested in the karyotype(s) of a particular species, genus or family as well as giving an overall account of the basic chromosome numbers and karyological trends in fishes.