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1.
Article in English | WPRIM | ID: wpr-739108

ABSTRACT

No abstract available.


Subject(s)
Arthritis, Rheumatoid , Centromere , Humans
2.
Article in English | WPRIM | ID: wpr-169577

ABSTRACT

A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y)(q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.


Subject(s)
Adolescent , Arm , Azoospermia , Centromere , Estradiol , Fluorescence , Follicle Stimulating Hormone , Foot , Genitalia , Gynecomastia , Hand , Humans , In Situ Hybridization , Karyotype , Male , Metacarpal Bones , Metatarsal Bones , Overweight , Polymerase Chain Reaction , Reference Values , RNA , Sequence Tagged Sites , Testosterone , Toes , Y Chromosome
3.
Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (1): 137-140
in English | IMEMR | ID: emr-176226

ABSTRACT

There are several syndromes in which specific mitotic chromosomal abnormalities can be seen, like premature centromere separation, premature [sister] chromatid separation, and somatic aneuploidies. Identifications of such specific cytogenetic findings can be the key factor that leads towards the diagnosis of syndromes like Roberts SC phocomelia. The case presented here as Roberts SC phocomelia syndrome was identified as a child with multiple congenital anomalies and dysmorphic features. Conventional cytogenetic analysis of the case revealed premature sister chromatid separation. The premature centromeric separation was also confirmed by C banding analysis of the child. It is the first and the only case of Roberts SC phocomelia diagnosed from this part of the world. The present case report emphasizes the importance of conventional cytogenetics in the diagnosis of such syndromes


Subject(s)
Humans , Female , Child, Preschool , Hypertelorism/diagnosis , Craniofacial Abnormalities/diagnosis , Cytogenetics , Centromere , Chromatids , Aneuploidy
4.
Protein & Cell ; (12): 411-419, 2014.
Article in English | WPRIM | ID: wpr-757492

ABSTRACT

Genetic information stored in DNA is accurately copied and transferred to subsequent generations through DNA replication. This process is accomplished through the concerted actions of highly conserved DNA replication components. Epigenetic information stored in the form of histone modifications and DNA methylation, constitutes a second layer of regulatory information important for many cellular processes, such as gene expression regulation, chromatin organization, and genome stability. During DNA replication, epigenetic information must also be faithfully transmitted to subsequent generations. How this monumental task is achieved remains poorly understood. In this review, we will discuss recent advances on the role of DNA replication components in the inheritance of epigenetic marks, with a particular focus on epigenetic regulation in fission yeast. Based on these findings, we propose that specific DNA replication components function as key regulators in the replication of epigenetic information across the genome.


Subject(s)
Cdc20 Proteins , Genetics , Metabolism , Centromere , Metabolism , Chromatin , Metabolism , Chromosomal Proteins, Non-Histone , Metabolism , DNA Replication , DNA, Fungal , Metabolism , Epigenesis, Genetic , Histones , Metabolism , Schizosaccharomyces , Genetics , Metabolism , Schizosaccharomyces pombe Proteins , Genetics , Metabolism
5.
Article in English | WPRIM | ID: wpr-31695

ABSTRACT

The C57BL/6J-fe/fe mouse is a coat color mutant. The coat color of the homozygote mouse becomes progressively lighter with advancing age. The faded gene (fe) of C57BL/6J-fe/fe was mapped in a 2.0 cM distal to D10mit191 by our group. To make a high-resolution map, we used the Korean wild mouse (KWHM) for a backcross panel, which was captured in 1995 and has been maintained as an inbred line by our laboratory. In the inter-specific backcross panel (N=400), the fe gene was mapped to 1.0 cM distal to D10mit156. The gene order was defined: centromere -D10mit3/85 (1.3+/-0.6 cM)-D10mit155 (1.3+/-0.6 cM)-D10mit191 (2.0+/-0.7 cM)-D10mit156 (1.0+/-0.5 cM)-fe-D10mit193 (1.3+/-0.6 cM)-D10mit54 (1.0+/-0.5 cM)-D10mit44 (8.5+/-1.4 cM)-D10mit42 (10.0+/-1.5 cM). The measured distance between D10mit191 and D10mit 44 differed in both inter-specific (DBA/2) and intra-specific (KWHM) backcross panels (14.2 vs 13.8 cM). Taken together, our high-resolution linkage map of the fe locus from an intra-specific backcross panel will provide a good entry point to isolate the fe gene.


Subject(s)
Animals , Centromere , Chromosomes, Human, Pair 10 , Gene Order , Hair Color , Homozygote , Mice
6.
Article in English | WPRIM | ID: wpr-144933

ABSTRACT

PURPOSE: This study aimed to investigate the clinical significance of chromosome 17 centromere (CEP17) multiplication (increased copy number of CEP17) related to human epidermal growth factor receptor 2 (HER2) and topoisomerase II alpha (TOP2A) status in patients with invasive breast cancer. METHODS: We constructed tissue microarrays using 594 invasive breast cancer samples and performed single-color silver-enhanced in situ hybridization (SISH) assay for HER2, TOP2A, and CEP17 to assess for copy number aberrations. The association of CEP17 multiplication with patient survival was analyzed according to HER2 and TOP2A status. RESULTS: Among 567 informative cases, HER2 amplification was noted in 22.8%, TOP2A amplification in 8.3% and TOP2A deletion in 11.1%. CEP17 multiplication was identified in 33.2% and was significantly associated with worse overall survival (OS) (p=0.02) and disease-free survival (DFS) (p=0.02). CEP17 multiplication correlated with patient survival in patients with normal TOP2A or non-amplified HER2 status, but the prognostic significance was lost in those with altered TOP2A or amplified HER2. On multivariate analyses, CEP17 multiplication was an independent prognostic factor for poorer OS (p=0.02) and DFS (p=0.01) in patients with normal TOP2A and non-amplified HER2. CONCLUSION: CEP17 multiplication was identified as a promising prognostic marker in patients with invasive breast cancer exhibiting either non-amplified HER2 or normal TOP2A status.


Subject(s)
Antigens, Neoplasm , Breast , Breast Neoplasms , Centromere , Chromosomes, Human, Pair 17 , Coat Protein Complex I , Disease-Free Survival , DNA Topoisomerases, Type II , DNA-Binding Proteins , Genes, erbB-2 , Humans , In Situ Hybridization , Multivariate Analysis , Prognosis , ErbB Receptors , Receptor, ErbB-2
7.
Article in English | WPRIM | ID: wpr-144920

ABSTRACT

PURPOSE: This study aimed to investigate the clinical significance of chromosome 17 centromere (CEP17) multiplication (increased copy number of CEP17) related to human epidermal growth factor receptor 2 (HER2) and topoisomerase II alpha (TOP2A) status in patients with invasive breast cancer. METHODS: We constructed tissue microarrays using 594 invasive breast cancer samples and performed single-color silver-enhanced in situ hybridization (SISH) assay for HER2, TOP2A, and CEP17 to assess for copy number aberrations. The association of CEP17 multiplication with patient survival was analyzed according to HER2 and TOP2A status. RESULTS: Among 567 informative cases, HER2 amplification was noted in 22.8%, TOP2A amplification in 8.3% and TOP2A deletion in 11.1%. CEP17 multiplication was identified in 33.2% and was significantly associated with worse overall survival (OS) (p=0.02) and disease-free survival (DFS) (p=0.02). CEP17 multiplication correlated with patient survival in patients with normal TOP2A or non-amplified HER2 status, but the prognostic significance was lost in those with altered TOP2A or amplified HER2. On multivariate analyses, CEP17 multiplication was an independent prognostic factor for poorer OS (p=0.02) and DFS (p=0.01) in patients with normal TOP2A and non-amplified HER2. CONCLUSION: CEP17 multiplication was identified as a promising prognostic marker in patients with invasive breast cancer exhibiting either non-amplified HER2 or normal TOP2A status.


Subject(s)
Antigens, Neoplasm , Breast , Breast Neoplasms , Centromere , Chromosomes, Human, Pair 17 , Coat Protein Complex I , Disease-Free Survival , DNA Topoisomerases, Type II , DNA-Binding Proteins , Genes, erbB-2 , Humans , In Situ Hybridization , Multivariate Analysis , Prognosis , ErbB Receptors , Receptor, ErbB-2
8.
Article in English | WPRIM | ID: wpr-74806

ABSTRACT

PURPOSE: The human WD repeat-containing protein 46 (WDR46; also known as C6orf11), located at the disease-relevant centromere side of the class II major histocompatibility complex region, is hypothesized to be associated with risk of aspirin-exacerbated respiratory disease (AERD) as well as a decline in forced expiratory volume in the first second (FEV1), an important diagnostic marker of asthma. METHODS: To investigate the association between WDR46 and AERD, five single-nucleotide polymorphisms (SNPs) were genotyped in 93 AERD cases and 96 aspirin-tolerant asthma controls of Korean ethnicity. Three major haplotypes were inferred from pairwise comparison of the SNPs, and one was included in the association analysis. Differences in the frequency distribution of WDR46 SNPs and haplotype were analyzed using logistic and regression models via various modes of genetic inheritance. RESULTS: Depending on the genetic model, the logistic and regression analyses revealed significant associations between rs463260, rs446735, rs455567, rs469064, and WDR46_ht2 and the risk of AERD (P=0.007-0.04, Pcorr=0.01-0.04) and FEV1 decline after aspirin provocation (P=0.006-0.03, Pcorr=0.01-0.03). Furthermore, functional analysis in silico showed that the G>A allele of rs463260 located in the 5' untranslated region potentially matched a nucleotide sequence within an upstream open reading frame of WDR46. CONCLUSIONS: These findings show for the first time that WDR46 is an important genetic marker of aspirin-induced airway inflammation and may be useful for formulating new disease-management strategies.


Subject(s)
5' Untranslated Regions , Alleles , Aspirin , Asthma , Base Sequence , Centromere , Computer Simulation , Forced Expiratory Volume , Genetic Markers , Haplotypes , Humans , Inflammation , Major Histocompatibility Complex , Models, Genetic , Open Reading Frames , Polymorphism, Single Nucleotide , Risk Factors
9.
Kosin Medical Journal ; : 25-30, 2012.
Article in Korean | WPRIM | ID: wpr-98970

ABSTRACT

OBJECTIVES: The purpose of this study is to compare newly developed assay for identification of ENA antibody, Phadia EliA ENA with Euroimmun line immunoassay by analyzing the degree of agreement and the individual antibodies between two methods. METHODS: A total of 82 patient samples were used. Indirect immunofluorescence assay using Hep-2 cell was performed to screen the antinuclear antibody (ANA). Euroimmun line immunoassay (LIA) and Phadia EliA ENA assay were tested to identify the antibodies against extractable nuclear antigens (ENAs). Kappa statistics was used to evaluate the degree of agreement. RESULTS: Mean age of patients was 41.0 (8-79), and the M:F ratio was 21:61. ANA was positive in 74 samples, and negative were 8 samples. Kappa analysis of the 82 tested samples showed a moderate strength of agreement (kappa = 0.521, P = 0.000). There were differences in the order of identified individual antibodies between two methods (Ro > La = RNP > Centromere > Sm > Scl-70 in Phadia EliA ENA, Ro > RNP > Sm>La > Scl-70 > Centromere=Jo-1 in Euroimmun LIA). Ro antibody was most frequently identified in Phadia EliA ENA negative-Euroimmun LIA positive specimens (Ro > RNP = Jo-1 > La = Sm = Centromere > Scl-70). CONCLUSIONS: A moderate strength of agreement was observed between the Phadia EliA ENA and the Euroimmun LIA. There seemed to be a significant difference in the ratio of individual antibodies, especially in the anti-Ro and Sm antibodies.


Subject(s)
Antibodies , Antibodies, Antinuclear , Antigens, Nuclear , Centromere , Fluorescent Antibody Technique, Indirect , Humans , Immunoassay
10.
Article in English | WPRIM | ID: wpr-119907

ABSTRACT

The elastin metabolism in systemic sclerosis (SSc) has been known to be abnormal. The authors investigated relationship between the clinical manifestations of systemic sclerosis (SSc) and serum levels of soluble elastin-derived peptide (S-EDP) and anti-elastin antibodies. Serum samples were obtained from 79 patients with SSc and 79 age- and sex-matched healthy controls. Concentrations of serum S-EDP and anti-elastin antibodies were measured by ELISA. The serum concentrations of S-EDP in SSc patients were significantly higher than in healthy controls (median, 144.44 ng/mL vs 79.59 ng/mL, P < 0.001). Serum EDP concentrations were found to be correlated with disease duration in SSc (P = 0.002) and particularly in diffuse cutaneous SSc (P = 0.005). Levels of anti-elastin antibodies were found to be more elevated in SSc patients than in healthy controls (median, 0.222 U vs 0.191 U, P = 0.049), more increased in diffuse cutaneous SSc than limited cutaneous SSc (median, 0.368 U vs 0.204 U, P = 0.031). In addition, levels of anti-elastin antibodies were also found to be negatively associated with presence of anti-centromere antibody (P = 0.023). The S-EDP levels were not found to be correlated with levels of anti-elastin antibodies. The increased S-EDP and anti-elastin antibody levels and association with clinical and laboratory characteristics may reflect the abnormal metabolism in SSc.


Subject(s)
Adult , Antibodies, Anti-Idiotypic/blood , Centromere/immunology , Elastin/blood , Enzyme-Linked Immunosorbent Assay , Female , Humans , Male , Middle Aged , Peptides/blood , Scleroderma, Systemic/metabolism
11.
Article in English | WPRIM | ID: wpr-78174

ABSTRACT

Recently we experienced three cases of human epidermal growth factor receptor 2 (HER2)-amplified invasive breast carcinomas associated with co-amplification or gain of chromosome 17 centromere (CEP17) in silver-enhanced in situ hybridization (SISH) analysis. These cases revealed 2+ or 3+ staining for HER2 immunohistochemistry and >6 HER2 copies per cell on SISH analyses. However, the calculated HER2/CEP17 ratios were low (6 per cell vs HER2/CEP17 ratio>2.2). We recommend reporting raw SISH or fluorescence in situ hybridization data, including number of cells counted, average numbers of HER2 and CEP17 signals, and the calculated HER2/CEP17 ratio to prevent underreporting of HER2 amplification.


Subject(s)
Breast , Breast Neoplasms , Centromere , Chromosomes, Human, Pair 17 , Coat Protein Complex I , Fluorescence , Humans , Immunohistochemistry , In Situ Hybridization , ErbB Receptors , Receptor, ErbB-2
12.
Article in Korean | WPRIM | ID: wpr-77830

ABSTRACT

Although trisomy 18 (Edwards' syndrome) or the terminal deletion syndromes of 18p and 18q have been occasionally detected, pseudoisodicentric chromosome 18 is a very rare constitutional chromosomal abnormality. We describe a case of pseudoisodicentric chromosome 18q without mosaicism, which was confirmed from fetal cells in the amniotic fluid used for prenatal diagnosis of multiple congenital anomalies. A 23-yr-old pregnant woman was suspected of having a fetal anomaly at 18(+3) weeks gestation. In sonography, the fetus showed multiple anomalies: bilateral overt ventriculomegaly in the brain, ventricular septal defect and valve anomaly in the heart, bilateral club foot, polydactyly, meningocele, and a single umbilical artery. The pregnancy was terminated and a conventional G-banded chromosome study was performed using amniotic fluid. Twenty metaphase cells among the cultured amniocytes showed a 46,XX,psu idic(18)(q22). Consequently, the fetus had partial trisomy (18pter-->q22) and partial monosomy (18q22-->qter). Both parents were confirmed to have a normal karyotype.


Subject(s)
Abnormalities, Multiple/diagnosis , Centromere , Chromosomes, Human, Pair 18 , Female , Gestational Age , Humans , Karyotyping , Pregnancy , Prenatal Diagnosis/methods , Trisomy , Ultrasonography, Prenatal , Young Adult
13.
Biol. Res ; 43(3): 275-285, 2010. ilus, graf, tab
Article in English | LILACS | ID: lil-571988

ABSTRACT

Understanding the spatial organization of the chromosomes in meiotic nuclei is crucial to our knowledge of the genome's functional regulation, stability and evolution. This study examined the nuclear architecture of Mus domesticus 2n=40 pachytene spermatocytes, analyzing the associations among autosomal bivalents via their Centromere Telomere Complexes (CTC). The study developed a nuclear model in which each CTC was represented as a 3D computer object. The probability of a given combination of associations among CTC was estimated by simulating a random distribution of 19 indistinguishable CTC over n indistinguishable "cells" on the nuclear envelope. The estimated association frequencies resulting from this numerical approach were similar to those obtained by quantifying actual associations in pachytene spermatocyte spreads. The nuclear localization and associations of CTC through the meiotic prophase in well-preserved nuclei were also analyzed. We concluded that throughout the meiotic prophase: 1) the CTC of autosomal bivalents are not randomly distributed in the nuclear space; 2) the CTC associate amongst themselves, probably at random, over a small surface of the nuclear envelope, at the beginning of the meiotic prophase; 3) the initial aggregation of centromere regions occurring in lepto-zygotene likely resolves into several smaller aggregates according to patterns of preferential partitioning; 4) these smaller aggregates spread over the inner face of the nuclear envelope, remaining stable until advanced stages of the meiotic prophase or even until the first meiotic division.


Subject(s)
Animals , Male , Mice , Cell Nucleus/ultrastructure , Chromosomes, Mammalian/ultrastructure , Spermatocytes/ultrastructure , Centromere/ultrastructure , Models, Biological , Meiotic Prophase I/physiology , Nuclear Envelope/ultrastructure , Telomere/ultrastructure
14.
Article in Chinese | WPRIM | ID: wpr-336069

ABSTRACT

<p><b>OBJECTIVE</b>To study the changes of peripheral blood chromosomal centromere aberration in patents with cytomegalovirus (CMV) infection after anti-viral treatment.</p><p><b>METHODS</b>Sixty-two patients with early spontaneous abortion and CMV infection analyzed for their peripheral blood chromosomal centromere using simultaneous silver staining before and after anti-viral treatment.</p><p><b>RESULTS</b>The patients with CMV infection had high rate of centromere aberration, which was decreased significantly after anti-viral treatment (P<0.0001).</p><p><b>CONCLUSION</b>CMV infection is a risk factor for peripheral blood chromosomal centrimere aberration. Anti-viral treatment can decrease the rate of centrimere aberration aberration. Detection of peripheral blood chromosomal centrimere aberration allows the assessment of the severity of infection and the condition after treatment.</p>


Subject(s)
Abortion, Spontaneous , Blood , Genetics , Adult , Antiviral Agents , Therapeutic Uses , Centromere , Genetics , Chromosome Aberrations , Cytomegalovirus Infections , Blood , Drug Therapy , Genetics , Female , Humans , Pregnancy , Pregnancy Complications, Infectious , Blood , Drug Therapy , Genetics , Young Adult
15.
Asian Journal of Andrology ; (6): 540-544, 2007.
Article in English | WPRIM | ID: wpr-310482

ABSTRACT

During liquefaction of the ejaculate, the semen coagulum proteins semenogelin I (SEMG1) and semenogelin II (SEMG2) are degraded to low molecular mass fragments by kallikrein-related peptidase 3 (KLK3), also known as prostate-specific antigen. Semenogelin molecules initiate their own destruction by chelating Zn(2+) that normally would completely inhibit the proteolytic activity of KLK3. In a similar way, semenogelins might regulate the activity of kallikrein-related peptidases in the epididymis, something that might be of importance for the maturation of spermatozoa or generation of anti-bacterial peptides. Studies on the evolution of semen coagulum proteins have revealed that most of them carry an exon that displays a rapid and unusual evolution. As a consequence, homologous proteins in rodents and primates show almost no conservation in primary structure. Further studies on their evolution suggest that the progenitor of the semen coagulum proteins probably was a protease inhibitor that might have displayed antimicrobial activity. The semenogelin locus on chromosome 20 contains at least 17 homologous genes encoding probable protease inhibitors with homology to semen coagulum proteins. All of these are highly expressed in the epididymis where they, similar to the semenogelins, could affect the maturation of spermatozoa or display antibacterial properties.


Subject(s)
Animals , Centromere , Chromosome Mapping , Chromosomes, Human, Pair 20 , Ejaculation , Epididymis , Physiology , Evolution, Molecular , Gene Expression Regulation , Humans , Male , Primates , Semen , Physiology , Seminal Vesicle Secretory Proteins , Genetics
16.
Article in Korean | WPRIM | ID: wpr-216287

ABSTRACT

BACKGROUND: It is known that the Y chromosome or Y-specific sequence is present in about 6% of Turner syndrome (TS) patients and that it predisposes them to gonadoblastoma formation with an estimated risk of 15-25%. In this study, we performed a polymerase chain reaction (PCR) in 32 patients with TS to detect Y-specific sequence. The results were compared with those obtained by the fluorescence in situ hybridaization (FISH) method. METHODS: Cytogenetic analysis was performed by phytohaemagglutinin (PHA)-stimulated peripheral lymphocyte cultures, using G-banding. DNA was extracted from peripheral blood for PCR. Seven different sets of oligonucleotide primers, sex determining region Y (SRY), zinc finger gene on the Y chromosome (ZFY), testis specific protein Y (TSPY), DYZ3, DYF49S1, RNA binding motif protein (RBM), and DYZ1, spanning on centromeres and short and long arms of the Y chromosome were used for PCR. FISH was carried out using X and Y chromosome enumeration probe for Xp11.1-q11.1 (DXZ1 locus) and Yp11.1-q11.1 (DYZ3 locus), respectively. RESULTS: Among 32 patients with TS, four (12.5%) were positive for Y specific sequence by PCR. Of these, two patients were detected previously by a cytogenetic analysis: 45,X/47,XYY and 45,X/46,XY. Only one Y specific sequence, DYZ3, was detected by PCR in the other two patients without cytogenetically obvious Y chromosome. Y signal was not detected by FISH for the last two patients. CONCLUSIONS: It may be reasonable to consider using a PCR method to screen for Y-specific sequences in all patients with TS. Even though we did not demonstrate Y-signal by FISH in patients with PCR positive and cytogenetically no obvious Y chromosome, FISH may be another useful method in TS patient, and futher investigation is nessessary.


Subject(s)
Arm , Centromere , Cytogenetic Analysis , DNA , DNA Primers , Fluorescence , Gonadoblastoma , Humans , Lymphocytes , Polymerase Chain Reaction , RNA , Testis , Turner Syndrome , Y Chromosome , Zinc Fingers
17.
Article in Chinese | WPRIM | ID: wpr-350997

ABSTRACT

<p><b>OBJECTIVE</b>Study on the karyotypes analysis of Ferula fukanensis.</p><p><b>METHOD</b>The young roots were treated with 0.000 2 mol x L(1) 8-Hydroxyquinoline for 3 h, carnoy's for 3 h, 1 mol x L(-1) HCl in 5 min,carbol fuchsin coloration for 2 min and the treated roots were utilizied to make the plate for observation.</p><p><b>RESULT</b>The fukanensis is diploid. The chromosome number of somatic cells was 2n = 22. The karyotype formula is 2n = 2x = 20 = 16m + 4sm. The 4th and 10th are submetacentric, and the others are metacentric.</p><p><b>CONCLUSION</b>The karyotype of F. fukanensis belongs to "2A" type of stebbins', and it is a primitive species.</p>


Subject(s)
Centromere , Chromosomes, Plant , Genetics , Diploidy , Ferula , Genetics , Karyotyping , Plant Roots , Genetics , Plants, Medicinal , Genetics , Seeds , Genetics
18.
Biocell ; 28(3): 279-285, dic. 2004. ilus, tab
Article in English | LILACS | ID: lil-405200

ABSTRACT

Mitotic chromosomes of the freshwater snail Pomacea patula catemacensis (Baker 1922) were analyzed on gill tissue of specimens from the type locality (Lake Catemaco, Mexico). The diploid number of chromosomes is 2n = 26, including nine metacentric and four submetacentric pairs, therefore, the fundamental number is FN = 52. No sex chromosomes could be identified. The same chromosome number and morphology were already reported for P. flagellata, i.e., the other species of the genus living in Mexico. The basic haploid number for family Ampullariidae was reported to be n = 14 in the literaure; so, its reduction to n = 13 is probably an apomorphy of the Mexican Pomacea snails. Lanistes bolteni, from Egypt, also shows n = 13, but its karyotype is much more asymmetrical, and seems to have evolved independently from P. flagellata and P. patula catemacencis. The nominotypical subspecies, P. patula patula (Reeve 1856), is a poorly known taxon, whose original locality is unknown. A taxonomical account is presented here, and a Mexican origin postulated as the most parsimonious hypothesis.


Subject(s)
Animals , Snails/classification , Snails/genetics , Gills/cytology , Gills/metabolism , Cytogenetic Analysis , Centromere/genetics , Chromosomes/classification , Chromosomes/genetics , Diploidy , Gonads/cytology , Gonads/metabolism , Karyotyping , Mexico , Metaphase/genetics
19.
Rev. bras. reumatol ; 44(3): 215-223, maio-jun. 2004. ilus, tab
Article in Portuguese | LILACS | ID: lil-392029

ABSTRACT

A esclerose sistêmica (ES) é uma enfermidade inflamatória crônica idiopática, cujo principal indício de vínculo com a auto-imunidade é a presença de auto-anticorpos na maior parte dos pacientes. Pelo teste de imunofluorescência indireta em células HEp-2, observa-se reatividade predominantemente contra o nucléolo e o núcleo, sendo que títulos de anticorpos antinucléolo acima de 1/640 são fortemente sugestivos de ES. Alguns desses auto-anticorpos apresentam alta especificidade para a ES, sendo considerados marcadores diagnósticos dessa enfermidade. São exemplos os anticorpos anti-Scl-70, antifibrilarina e anti-RNA polimerase I. Outros apresentam interessantes associações com manifestações específicas da ES, como os anticorpos anticentrômero, associados às formas limitadas, os anticorpos anti-RNA polimerase III, associados ao extenso comprometimento da pele, e os anticorpos anti-To/Th, associados às formas limitadas com propensão ao desenvolvimento de hipertensão pulmonar. Algumas dessas associações estão bem estabelecidas em diversos estudos, de diferentes grupos de pesquisadores. Outras, entretanto, devem ser vistas com cautela, pois a exigüidade de casos disponíveis para estudo pode ensejar conclusões preliminares e não acuradas. A detecção de anticorpos anticentômero por técnica de IFI e anti-Scl-70 por imunodifusão dupla ou por ELISA está disponível nos principais laboratórios clínicos capacitados na área de auto-imunidade. O mesmo não se aplica para a maior parte dos demais auto-anticorpos associados à ES. Espera-se que, com a implementação rotineira de técnicas para detecção desses outros auto-anticorpos, o real significado clínico dos mesmos venha a ser melhor conhecido.


Subject(s)
Humans , Antibodies , Autoantibodies , Centromere , Scleroderma, Systemic
20.
Article in Korean | WPRIM | ID: wpr-193361

ABSTRACT

BACKGROUND: Behcet's disease has features consistent with an immunopathogenic mechanism, but the autoreactivity in pathogenesis is unclear. OBJECTIVE: This study was to investigate the association of antinuclear antibodies (ANA) with Behcet's disease. METHODS: The patients in this study were diagnosed at Severance Hospital Behcet's Disease Specialty Clinic from May, 1998 to May, 2002. We evaluated the frequency, titers and immunofluorescence patterns of ANA in patients with Behcet's disease, and compared the frequency with a healthy control group. According to the positivity of ANA, we compared the frequency of minor symptoms to investigate the association of the severity of disease with ANA. RESULTS: 1. Of the 554 cases of Behcet's disease, 46 cases (8.3%) were ANA positive, however, of the 271 cases of healthy control group, only 5 cases (1.8%) were ANA positive. (p=0.0003) 2. In ANA titers 38 cases (82.6%) showed low titer (1: 40+, 1: 160-), 5 cases (10.9%) intermediate titer (1: 160+, 1: 640-), and 3 cases high titer (>1: 640+). There was no significant difference in intermediate and high titers between complete (17.9%) and incomplete type (14.3%). 3. In immunofluorescence patterns of ANA, 17 cases (37%) were speckled pattern, 5 cases (10.9%) homogeneous pattern, 3 cases (6.5%) centromere pattern, 2 cases (4.3%) nucleolar pattern and 19 cases (41.3%) unknown pattern. 4. Of 508 cases with negative ANA patients, 272 cases (53.5%) had minor symptoms, however, of 46 cases with positive ANA patients, 14 cases (30.4%) had minor symptoms (p=0.0027). CONCLUSION: From this study ANA was more prevalent in Behcet's disease. However, it was not related to severity of disease and most of them were low titer. ANA, herein, might play a minor role in pathogenesis of Behcet's disease.


Subject(s)
Antibodies, Antinuclear , Centromere , Fluorescent Antibody Technique , Humans
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