Acute myeloid leukemia (AML) is a phenotypically heterogeneous disorder. The M4 subtype of AML is frequently associated with the cytogenetic marker inversion 16 and/or the presence of eosinophilia. Blast crisis is the aggressive phase of the triphasic chronic myeloid leukemia (CML), which is a disease with Philadelphia(Ph) chromosome as the major abnormality. In the present study, we report a 76-year-old patient suspected of having AML with eosinophilic differentiation (AML-M4), which in clinical tests resembles CML blast crisis with multiple chromosomal abnormalities. Isochromosome 21 [i(21)(q10)] was the most recurrent feature noted in metaphases with 46 chromosomes. Ring chromosome, tetraploid endoreduplication, recurrent aneuploid clones with loss of X chromosome, monosomy 17, monosomy 7, and structural variation translocation (9;14) were also observed in this patient. Fluorescent in situ hybridization (FISH) confirmed the absence of Ph chromosome. This report shows how cytogenetic analyses revealed atypical structural aberrations in the M4 subtype of AML.
Aged ; Blast Crisis ; genetics ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 14 ; genetics ; Chromosomes, Human, Pair 17 ; genetics ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 7 ; genetics ; Chromosomes, Human, Pair 9 ; genetics ; Chromosomes, Human, X ; genetics ; Cytogenetic Analysis ; Endoreduplication ; Humans ; In Situ Hybridization, Fluorescence ; Isochromosomes ; Leukemia, Myelomonocytic, Acute ; genetics ; pathology ; Male ; Philadelphia Chromosome ; Polyploidy ; Ring Chromosomes ; Translocation, Genetic

OBJECTIVE: To assess the value of chromosomal karyotyping analysis and single nucleotide polymorphism-based microarray (SNP-array) for the detection of chromosomal mosaicisms in amniotic fluid samples. METHODS: Seventy four pregnant women with fetal mosaicisms detected by both methods were retrospectively analyzed. RESULTS: Among the 74 mosaicisms, 12 were pseudo and 62 were true mosaicisms, which included 1 Robertsonian translocation, 3 deletions, 4 supernumerary markers, 19 autosomal aneuploidy mosaicisms, 30 sex chromosome aneuploidy mosaicisms and 5 isometric chromosome mosaicisms. CONCLUSION Chromosome karyotyping analysis and SNP-array have their own advantages and limitations for the diagnosis of mosaicisms. When the two methods have yielded inconsistent results, fluorescence in situ hybridization may be used for further verification.
Aneuploidy ; Chromosome Aberrations ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Mosaicism ; Pregnancy ; Prenatal Diagnosis/methods* ; Retrospective Studies ; Sex Chromosome Aberrations

The toxic action of benzene on erythropoiesis and myelopciesis, has been recognized since the early years of the present century. With the advance in high civilization and modern covenience, benzene as a kind of aromatic compound has been used for industrial solvent and its longstanding use has committed a public nuisance to be overcome by medical approach. Chromosomal breakage and rearrangement may be produced by radiation, radiomimetics, virus infection and various chemicals, especially, antibiotics and antitumor agent, causing chroimosomal rearrangement in vitro, whose teratogenic action in rats was previously demonstrated. Several works hsve been published on the chromosome damage as a consequence of benzene intoxication. Recently, it was shown by certain workers that individuals who had been exposed to atmospheric benzene, even without haematological disorders, might have an elevated percentage of structural chromosome aberrations in the lymphocytes cultured from their peripheral blood. Moreover, structural and numerical chromosome aberrations were demons trated in patients with blood disorders which were believed to be due to exposure to beuzene vapors. Accordingly, much interest has been paid to its cytologic effect on the hematopoietic tissues in man and experimental animals. A high incidence of chromosomal aberrations has also been found in rabbits exposed to benzene during a period of peripheral pancytopenia and after hematologic recovery. The significance of these findings was discussed in relation to leukemic transition and to their diagnostic value in human benzene intoxication. Chromosomal anomalies can also be induced by benzene given subcutaneously to rata. A pronounced individual variation of the degree of chromosome damage was shown. The purpose of this investigation was to determine whether benzene could a direct effect on the chromosome complement of mammalian bone marrow cells in vivo and whether characteristic banding patterns might be demonstrated in rat chomosomes by a modified trypsin-Giemsa method. Four-week old Sprague-Dawley strain rats of both sexes(each weighing about 50gm) were used for this experimental study. Three groups of animals were treated-with subcutaneous infections of pure benzene. Group I received benzene, 2.0ml per kg body weight, 24 hours before sacrifice; Group II, 48 and 24 hours and Group III, 72, 48 and 24 hours. A control group was given no treatment. The animais were sacrificed in ether anesthesia. Femur and iliac bone marrow cells were suspended in medium 199 within 30 minutes and transferred to warm Hanks-distilled water(1:3) for hypotonic treatment(10 minutes). A freshly prepared solution of methanol glacial acetic acid (3:1) was used as fixative. Finally, a few drops of the cell suspension were placed on moistened, pre-cleaned slides being dried by rapid-drying technique. The slides were stained with either simple Giemsa or trypsin Giemsa banding technique. From the data obtained, this report was summarized as follows: 1. For the benzene-treated groups, chromosomal aberration rate was 13.4% in group II and 38.6% in group III, while in the controls the rate was 6.4 percent. 2. Numerical aberrations included aneuploidy, polyploidy and monoploidy. The most frequent type was hypodiploidy (5.8–9.4%) in all the treated groups. 3. Structural aberrations could be divided in gaps, ring chromosomes, breaks, deletions, exchanges and dicentrics. Among those, the majority of abnormal metaphases was gaps; 2.4%, 2.2% and 10.8% in group I, II and III respectively, and 1. 6% in control group. 4. The translocations and dicentrics were not demonstated in group I and II. 5. The normal chromosome set of the Sprague-Dawley rat was comprised of 42 chromosomes: 20 pairs of autosomes, and one pair of sex chromosomes, xx or XY chromosomes. The total number of major bands in s chromosome complement was about 40 and minor bands, 13, 6. Sucessful demonstration of banding patterns was available by proper adjustment of the concentration, temperature and duration of trypsin solution.
Acetic Acid ; Anesthesia ; Aneuploidy ; Animals ; Anti-Bacterial Agents ; Benzene ; Body Weight ; Bone Marrow Cells ; Bone Marrow ; Chromosome Aberrations ; Chromosome Breakage ; Civilization ; Complement System Proteins ; Erythropoiesis ; Ether ; Femur ; Humans ; In Vitro Techniques ; Incidence ; Lymphocytes ; Methanol ; Methods ; Pancytopenia ; Polyploidy ; Rabbits ; Rats ; Rats, Sprague-Dawley ; Ring Chromosomes ; Sex Chromosomes ; Trypsin

Plasmodium vivax merozoite surface protein-1 (PvMSP1) gene codes for a major malaria vaccine candidate antigen. However, its polymorphic nature represents an obstacle to the design of a protective vaccine. In this study, we analyzed the genetic polymorphism and natural selection of the C-terminal 42 kDa fragment within PvMSP1 gene (Pv MSP142) from 77 P. vivax isolates, collected from imported cases of China-Myanmar border (CMB) areas in Yunnan province and the inland cases from Anhui, Yunnan, and Zhejiang province in China during 2009–2012. Totally, 41 haplotypes were identified and 30 of them were new haplotypes. The differences between the rates of non-synonymous and synonymous mutations suggest that PvMSP142 has evolved under natural selection, and a high selective pressure preferentially acted on regions identified of PvMSP133. Our results also demonstrated that PvMSP142 of P. vivax isolates collected on China-Myanmar border areas display higher genetic polymorphisms than those collected from inland of China. Such results have significant implications for understanding the dynamic of the P. vivax population and may be useful information towards China malaria elimination campaign strategies.
China ; Genetic Variation* ; Haplotypes ; Malaria ; Merozoite Surface Protein 1* ; Merozoites* ; Myanmar ; Plasmodium vivax* ; Plasmodium* ; Polymorphism, Genetic ; Selection, Genetic* ; Silent Mutation

PURPOSE: Cytogenetic analysis of spontaneous abortions (SABs) provides valuable information to establish the causes of fetal loss, information that is essential to provide accurate reproductive and genetic counseling couples. Such analysis also provides information on the frequencies and types of chromosomal abnormalities and associated risks of recurrence. However, there have only been a few reports of chromosomal abnormalities in small samples of SABs in the Korean population. Here, we report the incidence and spectrum of chromosomal abnormalities for cases of 470 SAB in Korea. MATERIALS AND METHODS: Between 2005 and 2010, a total of 470 products of conception (POC) resulting from SABs were submitted to our laboratory for cytogenetic analysis from various medical sites in Korea. The incidences and types of specific chromosomal abnormalities were determined. The abnormalities were distinguished by gestational age at the time of SAB and by maternal age. RESULTS: The frequency of chromosomal abnormalities in POCs was 54.3% (255/470), including 228 (89.3%) numerical and 27 (10.7%: 3 balanced and 24 unbalanced) structural abnormalities. Among the numerical abnormalities, trisomy was predominant (67.0%), followed by monosomy X (12.5%), polyploidy (8.2%), triple X (0.8%), and autosomal monosomy (0.8%). The overall sex ratio (male: female) among the 470 POCs with normal and abnormal karyotypes were 0.58 and 0.65, respectively. Trisomies were identified for each autosome, with the exceptions of 1, 3, and 19. Among the 171 autosomal trisomies, trisomy 16 was the most common (19.9%), followed by trisomy 22 (13.5%), trisomy 21 (12.3%), trisomy 15 (9.9%), and trisomies 18 and 13 (5.3%). The frequency of chromosomal abnormalities decreased with gestational age and increased with maternal age, but only because of increases in trisomies and complex abnormalities. CONCLUSIONS: We have presented a large collection of cytogenetic data for SABs collected during the past 6 years and provided a database for prenatal genetic counseling of parents who have experienced SABs in Korea.
Abnormal Karyotype ; Abortion, Spontaneous ; Chromosome Aberrations ; Chromosomes, Human, Pair 16 ; Chromosomes, Human, Pair 22 ; Cytogenetic Analysis ; Cytogenetics ; Down Syndrome ; Family Characteristics ; Female ; Fertilization ; Genetic Counseling ; Gestational Age ; Humans ; Incidence ; Karyotype ; Korea ; Maternal Age ; Monosomy ; Mosaicism ; Parents ; Polyploidy ; Pregnancy ; Recurrence ; Sex Ratio ; Trisomy

OBJECTIVEThis study aimed to analyze the genetic diversity and genetic relationship of germplasm resources of Lonicera japonica in main producing areas of China and provide reference for developing new varieties of L. japonica.

METHODUsing 6 primer combinations, 13 germplasm of L. japonica were analyzed by AFLP marker. The genetic distance was worked out by using DPS V3.01 software, and the cluster was conducted based on UPGMA.

RESULTA total of 435 bands were obtained including 191 polymorphic ones. The average polymorphic frequency was 43.9%. Cluster analysis showed that the relationship of cultivated variety from the same genuine area was near, and the classification result based on AFLP marker of germplasm of L. japonica from Shandong province was basically consistent with those on their morphological character.

CONCLUSIONAFLP marker can indicate the abundant genetic diversity of L. japonica and provide theoretical evidence for reasonable utilization and breeding new cultivar of L. japonica in molecular level.

Amplified Fragment Length Polymorphism Analysis ; China ; Genetic Variation ; Lonicera ; classification ; genetics ; Phylogeny ; Polymorphism, Restriction Fragment Length

OBJECTIVE: To explore the coincidence rate of G-banding karyotype analysis and fluorescence in situ hybridization (FISH) for the diagnosis of children with sex chromosome mosaicisms. METHODS: A retrospective analysis was carried out for 157 children with suspected sex chromosome abnormalities who had presented at Shenzhen Children's Hospital from April 2021 to May 2022. Interphase sex chromosome FISH and G-banding karyotyping results were collected. The coincidence rate of the two methods in children with sex chromosome mosaicisms was compared. RESULTS: The detection rates of G-banding karyotype analysis and FISH were 26.1% (41/157) and 22.9% (36/157) , respectively (P > 0.05). The results of G-banding karyotype analysis showed that 141 cases (89.8%) were in the sex chromosome homogeneity group, of which only 5 cases (3.5%) were inconsistent with the results of FISH. There were 16 cases (10.2%) in the sex chromosome mosaicism group, of which 11 cases (68.8%) were inconsistent with the results of FISH. There was a statistical difference between the two groups in the coincidence rate of the results of the two methods (P < 0.05). CONCLUSION No significant difference was found between G-banding karyotype analysis and FISH in the detection rate of chromosome abnormalities. The coincidence rate in the mosaicism group was lower than that in the homogeneity group, and the difference was statistically significant. The two methods should be combined for clinical diagnosis.
Humans ; Mosaicism ; In Situ Hybridization, Fluorescence/methods* ; Retrospective Studies ; Karyotyping ; Chromosome Aberrations ; Sex Chromosome Aberrations ; Karyotype ; Chromosome Banding ; Sex Chromosomes

OBJECTIVETo investigate the correlation of male infertility with abnormality of chromosomal quantity and construction and with the deletion of DAZ gene copy in the AZFc region of Y chromosome.

METHODSIncluded in the study were 247 azoospermic and 206 severe oligozoospermic patients, as well as 210 fertile men as controls. Multi-PCR and PCR-RFLP were used to analyze the deletion of DAZ gene copies in the AZFc region of Y chromosome. Chromosomal quantity and construction were detected by G-band in the 453 patients.

RESULTSIn the azoospermic and severe oligozoospermic patients, the incidences of chromosomal abnormality were 12.6% and 8.3%; the rates of complete DAZ deletion were 7.7% and 11.2%, and the rates of DAZ1/DAZ2 deletion were 7.3% and 4.9% respectively, but no deletion was detected in the controls.

CONCLUSIONThere is a high frequency of chromosomal abnormality and DAZ gene copy deletion in patients with azoospermia and oligospermia, which suggests that chromosomal abnormality and partial and complete deletion of DAZ gene copy might be important genetic causes of Chinese male infertility.

China ; epidemiology ; Chromosome Deletion ; Chromosomes, Human, Y ; genetics ; Deleted in Azoospermia 1 Protein ; Gene Dosage ; Humans ; Infertility, Male ; epidemiology ; genetics ; Male ; Oligospermia ; epidemiology ; genetics ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; RNA-Binding Proteins ; genetics ; Sex Chromosome Aberrations

Varicella-Zoster virus (VZV) is the causative agent of chickenpox in children. It also causes herpes zoster in old or immunocompromised people. For effective control of VZV, live attenuated vaccine (Oka strain) was developed in 1974 and has been used worldwidely. This vaccine is indicated when VZV infection can be fatal, such as leukemia, with favorable success. Recently, routine usage of VZV vaccine for general young population was proposed. However, general use of vaccine requires prior epidemiological study of wild strains prevailing in the target population. In this regard, we investigated the antigenic and genetic variations, if any, between Oka strain and wild strains isolated in Korea. Six wild strains of VZV isolated from zoster patients in Korea, Ellen (the labaratory-adapted strain) and Oka (vaccine) strains were cultivated in Vero cells. After the VZV-infected Vero cells were stained with specific monoclonal antibody panel, the immunofluorescent patterns were compared. The VZV-infected Vero cells were also extracted after metabolic labelling to be immunoprecipitated with the monoclonal antibodies. However, the patterns of immunofluorescent staining and immunoprecipitation did not show any antigenic difference among wild strains and vaccine or standard strain. When the VZV gene was amplified by polymerase chain reaction using primer VZV 115953 and 116605, and the PCR products were cleaved by restriction enzymes (Taq I, Bl II, and Hpa II), two kinds of restriction patterns were observed. These results suggested that antigenic variation was not common among wild strains of VZV isolated in Korea and between vaccine strain. But the different restriction patterns implied potential antigenic variation.
Antibodies, Monoclonal ; Antigenic Variation ; Chickenpox ; Child ; Epidemiologic Studies ; Genetic Variation ; Health Services Needs and Demand ; Herpes Zoster ; Herpesvirus 3, Human* ; Humans ; Immunoprecipitation ; Korea* ; Leukemia ; Polymerase Chain Reaction* ; Polymorphism, Restriction Fragment Length* ; Vero Cells

Restriction site amplification polymorphism (RSAP) markers were employed to access the genetic diversity and relationship of 120 lilyturf germplasms from different geographical origins. Sixteen RSAP primer pairs generated 326 polymorphic bands, of which 318 (97.55%) were polymorphic. The value of polymorphism information content (PIC) ranged from 0.87 to 0.95 with an average of 0.92. These results indicated there was abundant genetic diversity among samples. The results of data analysis on 20 population showed that the value of percentage of polymorphic locus (PPL), Nei's gene diversity (H) and Shannon's information index (I) were 19.94%-85.58%, 0.082 6-0.210 7, 0.120 6-0.328 1 respectively. The most abundant genetic diversity was found in the O. japonicus population from Zhejiang and the least in the Liriope minor population. The genetic distance among 20 population was 0.024 6-0.286 8, of which the minimum genetic distance was 0.024 6 between population I and population 13 while the maximum 0.286 8 between population 5 and population 15. Coefficient of genetic differentiation among natural populations was 0.115 3 (Gst). And the gene differentiation contributed to 43.07% of the total genetic variation among populations and to 56.93% within populations. The total gene flow (Nm) was 0.660 9. UPMGA clustering analysis was basically similar to of the principle coordinate analysis (PCA). The 120 samples were classified into four major groups, which were basically corresponded with the genetic relationships based on morphological traits. The results of UPMGA and PCA were also consistent with geographical origins.
Amplified Fragment Length Polymorphism Analysis ; China ; Genetic Variation ; Liriope Plant ; classification ; genetics ; Phylogeny ; Polymorphism, Restriction Fragment Length