RESUMO
Ovarian tumors from two patients, compatible by histological and immunohistochemical criteria with small cell carcinoma of hypercalcemic type (SCCHT) (WT1+, EMA dispersed+, synaptophysin+ or dispersed+), were extensively sampled in order to find clues to their histogenesis. Subsequently, small foci of immature teratoma were found in both of them (in 1/122 and in 3/80 tumor sections). In one case, microfoci of yolk sac tumor were also present within the teratoma area as well as in the background of the small cell tumor population - in the primary tumor and in omental metastasis. We found a resemblance of the microscopic patterns of SCCHT and atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system, and this prompted us to evaluate INI-1 and SMARCA4 immunohistochemical expression, because their alternative loss is regarded as a molecular hallmark of AT/RT. INI-1 expression was retained, while that of SMARCA4 was lost. We therefore analyzed tumor DNA by PCR amplification and sequencing for mutations in the SMARCA4 gene (NG_011556.1), which were identified in both tumors (c.2184_2206del; nonsense c.3277C>T - both in one tumor; nonsense c.3760G>T in another tumor). These data suggest that SCCHT is most likely an embryonal tumor originating from immature teratoma and related to malignant rhabdoid tumor. Further analyses are necessary to determine whether the tumors diagnosed as SCCHT constitute a homogeneous group or represent more than one entity.
Assuntos
Biomarcadores Tumorais/genética , Carcinoma de Células Pequenas/genética , DNA Helicases/genética , Regulação Neoplásica da Expressão Gênica , Proteínas Nucleares/genética , Neoplasias Ovarianas/genética , Fatores de Transcrição/genética , Adulto , Biomarcadores Tumorais/metabolismo , Carcinoma de Células Pequenas/metabolismo , Carcinoma de Células Pequenas/patologia , Carcinoma de Células Pequenas/cirurgia , DNA Helicases/metabolismo , DNA de Neoplasias/química , DNA de Neoplasias/genética , Diagnóstico Diferencial , Feminino , Inativação Gênica , Mutação em Linhagem Germinativa , Humanos , Proteínas Nucleares/metabolismo , Neoplasias Ovarianas/metabolismo , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/cirurgia , Projetos Piloto , Gravidez , Estudos Prospectivos , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Análise de Sequência de DNA , Teratoma/genética , Teratoma/patologia , Fatores de Transcrição/metabolismoRESUMO
An immunoblotting procedure is described which makes it possible to screen multiple blood samples for the presence of glycophorin and band 3 variant forms with altered electrophoretic mobility. The procedure can be simplified by using whole red blood cell hemolysates instead of membranes for SDS-polyacrylamide gel electrophoresis. The use of hemolysates also has the advantage that antigens sensitive to proteolysis are not degraded in vitro. The same nitrocellulose blots were used for immunoenzymatic detection of glycophorins with a set of anti-glycophorin monoclonal antibodies, and for autoradiographic detection of band 3-derived bands with 125I-labeled anti-band 3 monoclonal antibody. The screening of 157 Caucasian blood samples revealed the presence of a slower-migrating form of band 3 in seven cases and variant glycophorin in one case. The variant glycophorin exhibited the features of hybrid glycophorin of B-A type.
Assuntos
Proteína 1 de Troca de Ânion do Eritrócito/imunologia , Western Blotting/métodos , Glicoforinas/imunologia , Anticorpos Monoclonais , Membrana Eritrocítica/química , Humanos , Peso Molecular , Linhagem , Polimorfismo GenéticoRESUMO
Frequency of PGM1 phenotypes and their corresponding genes in the Polish population was determined in two samples: in 760 adults and 240 children. The frequency of the PGM1 1 gene in adults was 0-748, and in children 0-765. A statistically significant deficiency of heterozygotes was found in adults. Heredity of the phosphoglucomutase system was studied in 52 families with 162 children, in 223 mother-child pairs, and in 73 twin pairs of the same sex. In all groups, phenotypes of PGM1 agreed with the hypothesis of heredity, assuming a pair of alleles of the PGM1 system. In the parent combinations PGM1 1-1 X PGM1 2-1 a deficiency of PGM1 2-1 children was found. Analysis of linkage of genes of the PGM1 system with eight group systems provided data indicating a possibility of linkage of the PGM1 system with the Rh system. The theoretical usefulness of the PGM1 system in paternity investigations in the Polish population was estimated to be 14-24%.
Assuntos
Eritrócitos/enzimologia , Fosfoglucomutase/metabolismo , Adulto , Alelos , Feminino , Medicina Legal , Frequência do Gene , Ligação Genética , Heterozigoto , Humanos , Lactente , Masculino , Paternidade , Fenótipo , Polônia , Gravidez , GêmeosRESUMO
The genetic polimorphism of galactose-1-phosphate-uridyl-transferase was studied in the sample of Polish population including 133 subjects. Three phenotypes were found, Gt 1-1 with a frequency of 0.8722; Gt-2-1 0.1203 and Gt 2-2 with a frequency 0.0075. Gene frequencies were Gt1 0.932 and Gt2 0.068.
Assuntos
Nucleotidiltransferases/genética , UTP-Hexose-1-Fosfato Uridililtransferase/genética , Alelos , Eritrócitos/enzimologia , Frequência do Gene , Humanos , Fenótipo , Polônia , UTP-Hexose-1-Fosfato Uridililtransferase/sangueRESUMO
The phenotype PGM1 7-1 is described in eight members of a Polish family. Analysis of the findings confirmed the hereditary character of this phenotype, dependent on presence of the PGM71 gene in conjunction with the PGM11 gene in all the subjects examined.
Assuntos
Isoenzimas/genética , Fosfoglucomutase/genética , Eletroforese em Gel de Amido , Frequência do Gene , Humanos , Linhagem , Fenótipo , PolôniaRESUMO
The determination of GLO types was carried out using two methods: on high voltage agarose gel and cellulose acetate foil. In the sample of the Polish population including 201 persons, three GLO types were encountered with the following frequencies: GLO 1-1 0.2438, GLO 2-1 0.4477, GLO 2-2 0.3035. Frequencies of GLO1 gene was 0.4726, GLO2 0.5724.
Assuntos
Isoenzimas/genética , Lactoilglutationa Liase/genética , Liases/genética , Eritrócitos/enzimologia , Frequência do Gene , Humanos , Isoenzimas/sangue , Lactoilglutationa Liase/sangue , Fenótipo , Polônia , Polimorfismo GenéticoRESUMO
Hereditary of the three enzyme systems EsD, Gt and GLO was studied in families and mother/child combinations. EsD types were determined in 88 families with 197 children and 1813 mother/child combinations. Gt types were studied in 78 families with 174 children and 114 mothers with one child. GLO types were determined in 82 families with 180 children and 298 mother/child pairs. The segregation in the different family combinations is in accordance with the simple formal model of two alleles at the autosomal loci.
Assuntos
Hidrolases de Éster Carboxílico/genética , Genética Populacional , Lactoilglutationa Liase/genética , Liases/genética , Nucleotidiltransferases/genética , UDPglucose-Hexose-1-Fosfato Uridiltransferase/genética , Adulto , Alelos , Criança , Família , Feminino , Frequência do Gene , Humanos , Fenótipo , PolôniaRESUMO
Using the method of isoelectric focusing on polyacrylamide gel, TfC subtypes were determined in 90 families with 173 children in 242 mother-child pairs. The results obtained have confirmed the hypothesis that transferrin phenotypes are determined by a single autosomal locus in which multiple alleles are situated.
Assuntos
Transferrina/genética , Criança , Feminino , Heterozigoto , Humanos , Focalização Isoelétrica , Masculino , Linhagem , FenótipoRESUMO
6-PGD types were examined in 467 adult, nonrelated subjects, inhabiting various regions of Poland. In the investigated sample three phenotypes were encountered: A, AB and B, having the following frequencies: 0.9191, 0.0878 and 0.0021, respectively. Frequencies of determining genes were calculated from distribution of the phenotypes with the following results: 6-PGDA = 0.954, 6-PGDB = 0.046.
Assuntos
Isoenzimas/genética , Fosfogluconato Desidrogenase/genética , Adulto , Eritrócitos/enzimologia , Feminino , Frequência do Gene , Humanos , Masculino , Fenótipo , PolôniaRESUMO
Examination of GPT system in 5418 paternity cases confirmed the elimination of maternity in 21 cases. The study of 12 probant families displayed the occurrence of opposite homozygous types in parents and children. The result obtained showed the presence of GPT0 gene in the families examined. Similar results were obtained by examining five families of alleged fathers whose paternity was eliminated on the same basis. In 12 families the activity of GPT was determined. In majority of subjects with GPT0 gene, markedly lowered activity was observed. This also concerned several homozygous subjects who were identical with their parents. The lowered activity of the enzyme is not present in all subjects with a "silent gene", and therefore, its examination cannot be used for detection of the gene.
Assuntos
Alanina Transaminase/genética , Adulto , Alanina Transaminase/fisiologia , Criança , Feminino , Frequência do Gene , Humanos , Masculino , Paternidade , Linhagem , Fenótipo , Polimorfismo GenéticoRESUMO
The fourth component of complement (C4) phenotype and allele frequencies were studied in 3 groups of unrelated children affected with hepatitis B virus (HBV) infection (25 with glomerulonephritis (GN), 39 with chronic active hepatitis (CAH), 24 with Gianotti-Crosti syndrome (GS-S)) and in 100 unrelated healthy individuals (H). Ten phenotypes in GN, 14 in CAH, 10 in GC-S and 23 in H were found. Some rare phenotypes appeared in the individual cases of ill children. Statistical analysis was performed by chi-square test. Each group was compared to the others. We found significantly higher frequency of the A3B2,Q0 phenotype in CAH than in H as well as significant increase of the A x 4 gene frequency in GC-S as compared to H. However, these events could be caused by limited number of tested patients. We suspect that the association between C4 alleles and immune-complex diseases, studied here, does not rather exist.
Assuntos
Complemento C4/genética , Vírus da Hepatite B , Hepatite B/genética , Hepatite B/imunologia , Alelos , Criança , Pré-Escolar , Feminino , Glomerulonefrite/complicações , Glomerulonefrite/genética , Glomerulonefrite/imunologia , Hepatite B/complicações , Humanos , Lactente , Masculino , Fenótipo , Polimorfismo GenéticoRESUMO
Types of the AK groups system were determined in a sample of the Polish population numbering 660 subjects. Two phenotypes were found: AK 1-1 with a frequency of 0-933, and AK 2-1 with a frequency of 0-067. Gene frequencies were AK1 = 0-967 and AK2 = 0-033. Distribution of phenotypes in 62 families with 195 children was consistent with the hypothesis according to which heredity of AK types depends on two codominant alleles.
Assuntos
Adenilato Quinase/metabolismo , Frequência do Gene , Fosfotransferases/metabolismo , Alelos , Eritrócitos/enzimologia , Heterozigoto , Homozigoto , Humanos , Músculos/enzimologia , Fenótipo , PolôniaRESUMO
Studies on UMPK polymorphism were carried out in a sample of the Polish population numbering 462 subjects. The occurrence of three phenotypes was confirmed--UMPK 1, UMPK 2-1 and UMPK 2. From distribution of phenotypes, frequencies of determining genes were calculated with the following results: UMPK1-0.9762, UMPK2-0.0238, The usefulness of this system in paternity cases is 1.69%.
Assuntos
Núcleosídeo-Fosfato Quinase/genética , Fosfotransferases/genética , Polimorfismo Genético , Eletroforese em Gel de Amido , Etnicidade , Humanos , Núcleosídeo-Fosfato Quinase/sangue , Polônia , Grupos RaciaisRESUMO
Alanine aminotransferase activities were tested in erythrocytes of Polish population sample of 213 adults (105 women and 108 men) and 95 children (aging 6 months to 4 years). In the tests a modified method of Wróblewski and Cabaud was used. A significant scatter of enzyme activities was noted, which ranged in adults between 0.76 and 36.86 mU/ml. In all studied groups, GPT 1 type individuals showed the highest and GPT 2 type donors the lowest activity of the enzyme. Mean activity of GPT 1 type adults was 19.27 mU/ml, in GPT 2-1 adults 13.6 mU/ml and in GPT 2 adults 8.87 mU/ml. GPT 2 type activity corresponds to approximately 46% and GPT 2-1 type activity to, approximately, 71% activity of GPT 1 type. Independently of GPT type, activity of the enzyme was lower in women in whom it amounted to 71-83% activity detected in men. In children, alanine aminotransferase activity was higher than in adults about 15-29%.
Assuntos
Alanina Transaminase/sangue , Adulto , Fatores Etários , Alanina Transaminase/genética , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Fenótipo , Polônia , Fatores SexuaisRESUMO
Distribution of esterase D types was studied in a sample of the Polish population numbering 885 subjects. Frequency of EsDl-1 type was 0.810, EsD2-1 -- 0.174, and EsD2-2 -- 0.16. Frequency of the genes EsD1 and EsD2, which determine this system, were 0.897 and 0.103 respectively. A study of 613 mother-child pairs revealed agreement with the hypothesis of two alleles in the EsD locus. The prevalence of EsD genes in the Polish population was similar to those reported in other European populations.
Assuntos
Esterases/genética , Polimorfismo Genético , Alelos , Eritrócitos/enzimologia , Esterases/sangue , Feminino , Frequência do Gene , Humanos , Masculino , PolôniaRESUMO
In a sample of the Polish population numbering 1,458 subjects, the three common types, C3S, C3F and C3FS, were found with frequencies of 0.6790, 0.0295 and 0.2901 respectively, besides two rare variants, C3FO, 7S and C3SO, 25S. Frequencies of C3S and C3F genes were 0.8248 and 0.1746 respectively, and of the CSFO,7 and C3SO,25 genes, 0.0003 each. Distribution of types in 695 mother-child pairs was consistent with the hypothesis that the C3 system depends on a single genetic locus in which codominat alleles are situated. No children of C3S and C3F mothers with opposite homozygous types were encountered. Hereditary character of the C3FO, 7S variant was confirmed by family studies in which the rare C3FO,7 gene, in combination with C3S or C3F genes, occured in three generations.
Assuntos
Complemento C3/genética , Alelos , Feminino , Frequência do Gene , Humanos , Masculino , Linhagem , PolôniaRESUMO
Frequency of PGM1 subtypes in the sample of the Polish population numbering 197 subjects was determined by the method of isoelectric focusing. Ten subtypes were encountered. Frequencies of genes were calculated from the subtype distribution with the following results: for PGM1+1 0.698, for PGM1-1 0.058, for PGM2+1 0.180 and for PGM2-1 0.064.
Assuntos
Fosfoglucomutase/análise , Frequência do Gene , Humanos , Focalização Isoelétrica , Fenótipo , Fosfoglucomutase/genética , Polônia , População BrancaRESUMO
Distribution of PLG types was studied in a sample of the Polish population numbering 230 subjects by the method of high-voltage agarose electrophoresis. Of three phenotypes encountered, PLG1, appeared with the frequency of 0.4870, PLG2-1 with 0.4391 and PLG2 with 0.0739. Assuming the hypothesis of PLG controlled by 2 alleles the frequencies of genotypes were calculated as follows: for PLG1 gene -0.71 and for PLG2 gene -0.29. PLG system in the Polish population was confirmed to be in a state of genetic equilibrium. The frequencies of PLG genes in the Polish population do not deviate from the frequencies encountered in other European populations.
Assuntos
Antígenos de Grupos Sanguíneos/genética , Plasminogênio/genética , Eletroforese em Gel de Ágar , Frequência do Gene , Humanos , PolôniaRESUMO
Frequency of occurrence of TFC and GC subtypes and determining genes was evaluated in 90 and 68 nonrelated psoriatic patients, respectively. The obtained distributions of frequencies were compared with those recorded in healthy population. No statistically significant differences were observed.
Assuntos
Psoríase/sangue , Transferrina/classificação , Proteína de Ligação a Vitamina D/classificação , Adolescente , Adulto , Idoso , Feminino , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Psoríase/genética , Transferrina/genética , Proteína de Ligação a Vitamina D/genéticaRESUMO
Four group systems of serum proteins (Hp, Gc, Km, Gm) and five group systems of erythrocyte enzymes (AP, PGM1, GPT, AK, EsD) were determined in samples of patients with rheumatoid arthritis and in healthy controls. Statistically significant differences were found in Gm system, namely Gm(1) factor was more frequent in rheumatoid patients than in healthy subjects.