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1.
Med. lab ; 24(1): 24-37, 2020.
Artigo em Espanhol | LILACS (Américas), COLNAL | ID: biblio-1097008

RESUMO

El síndrome de Down es causado por la presencia de una tercera copia del cromosoma 21 y fue descrito por primera vez en 1838 por Jean-Etienne-Dominique, y más tarde por John Langdon Haydon Down en 1866, mientras trabajaba como superintendente médico en el Asilo Real de Earlswood. Desde ese momento, la comunidad científica puso grandes esfuerzos en tratar de elucidar diversos aspectos que influyen en la naturaleza de esta condición, y que determinan su incidencia y factores de riesgo. De igual manera, se ha puesto interés en los genes involucrados en esta enfermedad, la relación genotipo-fenotipo, la expresión del fenotipo, la variabilidad del material genético y las consecuencias transcripcionales que se producen al tener una tercera copia, ya sea parcial o total, del cromosoma 21. Además, se han invertido esfuerzos en identificar biomarcadores y en diseñar metodologías de diagnóstico prenatal no invasivo que sean altamente eficientes para un mejor diagnóstico del síndrome de Down, y así reducir su impacto negativo en las madres gestantes, al proveerlas de información neutral y precisa acerca de vivir con un hijo con síndrome de Down, y darles autonomía en la decisión de la continuación de su embarazo


Down syndrome is caused by the presence of a third copy of chromosome 21 and was first described by Jean-Etienne-Dominique in 1838, and later by John Langdon Haydon Down in 1866, while working as a medical superintendent in the Royal Earlswood Asylum. Since, the scientific community has placed great efforts in trying to elucidate different influencing features in the nature of this condition that determine their incidence and risk factors. In addition, especial attention has been given to the genes involved in this disease, the genotype-phenotype relationship, the expression of the phenotype, the variability of the genetic material and the transcriptional consequences that are produced by having a third copy, either partial or total, of chromosome 21. Additionally, efforts have been invested in identifying biomarkers and designing noninvasive prenatal methodologies that are highly efficient for a better diagnosis of Down syndrome, in order to reduce its negative impact in pregnant mothers, by providing them with neutral and accurate information about life with a child with Down syndrome, as well as providing the autonomy in the decision to continue their pregnancy


Assuntos
Cromossomos Humanos Par 21 , Fenótipo , Síndrome de Down , Ácidos Nucleicos Livres
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-776749

RESUMO

OBJECTIVE@#To emphasize the clinical significance of copy number variations (CNVs) detection by describing a case misdiagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis.@*METHODS@#A girl with obesity and short stature was diagnosed as trisomy 21 syndrome by G-banded chromosomal karyotype analysis. Considering the discrepancy of her karyotype with her phenotype, genomic CNVs was detected by next-generation sequencing and the result was verified by quantitative PCR (qPCR).@*RESULTS@#A microduplication of 16p11.2: 29 642 339-29 775 631 (133.292 kb) was detected. qPCR assay for QPRT and SPN located in the duplicated region confirmed the finding of CNVs assay. Meanwhile, her parents did not present similar duplication in 16p11.2.@*CONCLUSION@#The 16p11.2 microduplication was a novel genomic structural variation in the girl, though it may not be associated with her clinical manifestations. Chromosomal microarray or next-generation sequencing-based CNVs detection can accurately determine the origin of small supernumerary marker chromosome and reduce the chance of misdiagnosis.


Assuntos
Bandeamento Cromossômico , Cromossomos Humanos Par 21 , Genética , Variações do Número de Cópias de DNA , Erros de Diagnóstico , Síndrome de Down , Feminino , Humanos , Cariotipagem , Trissomia , Diagnóstico
3.
Artigo em Coreano | WPRIM (Pacífico Ocidental) | ID: wprim-715121

RESUMO

A patient with Down syndrome has hematologic and oncologic disorders of medical complication. Down syndrome shows that characteristic hematologic and oncologic abnormalities and developments of disorders are different at ages. Many hematologic disorders were related to Down syndrome. There are diseases of red blood cells, white blood cell disorders, platelet and bleeding disorders, aplastic anemia, and transient myeloproliferative disease. Acute myeloid leukemia, acute lymphoblastic leukemia, and rarely solid tumors (Neuroblastoma, Wilm's tumor, Hodgkin's lymphoma) are also associated with Down syndrome. We checked clinical manifestations of each disorder and we should make standard hematologic index of different age groups. In addition, the relations between chromosome 21 and hemato-oncologic disorders should be found. We need to investigate potential therapeutic interventions that can improve quality of life and life expectancy in patients with Down syndrome.


Assuntos
Anemia Aplástica , Plaquetas , Cromossomos Humanos Par 21 , Síndrome de Down , Eritrócitos , Hemorragia , Humanos , Leucemia Mieloide Aguda , Leucócitos , Expectativa de Vida , Transtornos Mieloproliferativos , Leucemia-Linfoma Linfoblástico de Células Precursoras , Qualidade de Vida , Tumor de Wilms
4.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-717634

RESUMO

Transient myeloproliferative disorder (TMD) is similar to congenital leukemia, with leukocytosis, increased peripheral blast cells, and hepatomegaly in the neonatal period. Although TMD occurs only in patients with Down syndrome and trisomy 21 mosaicism, there have been reports of congenital leukemia with trisomy 21 limited to hematopoietic cells showing spontaneous resolution. We identified trisomy 21 in the leukemic cells in a patient with congenital leukemia. As there was no other gene abnormality, we stopped chemotherapy, and the disease resolved spontaneously. We reviewed the cases of clonal trisomy 21 TMD and found that their clinical features were similar to those of TDM associated with Down syndrome. In conclusion, in a phenotypically normal patient with suspected congenital leukemia, it is necessary to confirm the presence of 21 trisomy. If the neonate has only trisomy 21 without other gene abnormalities, intensive chemotherapy may not be required.


Assuntos
Cromossomos Humanos Par 21 , Síndrome de Down , Tratamento Farmacológico , Fator de Transcrição GATA1 , Hepatomegalia , Humanos , Lactente , Recém-Nascido , Leucemia , Leucocitose , Mosaicismo , Transtornos Mieloproliferativos , Trissomia
5.
Rio de Janeiro; s.n; 2017. tab, graf, ilus.
Tese em Português | LILACS (Américas), Inca | ID: biblio-943742

RESUMO

A leucemia linfoblástica aguda de células precursoras B (LLA-CPB) é uma neoplasia heterogênea. Aproximadamente 60% das LLA-CPB apresentam alterações envolvendo o cromossomo 21, incluindo hiperdiploidia, fusão gênica ETV6‐UNX1 e amplificação intracromossomal do cromossomo 21 (iAMP21). Mecanismos epigenéticos contribuem para a leucemogênese e a metilação do DNA, por sua vez, pode ser modulada por polimorfismos na via do folato. Portanto, este estudo tem como objetivo caracterizar o perfil genético e de metilação de DNA em LLA-CPB com alterações no cromossomo 21. Este estudo partiu de uma série de 1006 casos de LLA-CPB diagnosticados de 2002-2016 e foi desenhado em 3fases: 1) Identificação dos casos com alterações em número de cópias (CNA) no cromossomo 21 usando multiplex ligation probe amplification (MLPA) e FISH (RUNX1 e sondas para os cromossomos 4, 8, 10, 14, 17, 18, X e Y); 2) Caracterização do perfil de metilação e CNA por meio da técnica de microarranjo. Para tanto, o DNA foi modificado com EZ DNA Methylation™ Kit e o perfil de metilação analisado pelo Infinium Human Methylation 450 BeadChip Kit; e 3) Análises comparativas de metilação de DNA gene-específica, metilação em LINE-1(pirosequenciamento) e genotipagem para o polimorfismo MTHFR rs1801133 (PCR-RFLP) entre os diferentes subtipos moleculares de LLA-CPB, controles e amostras em remissão. Encontramos evidências de ganhos em CNA no cromossomo 21 em 83/374 (22%) das amostras (MLPA)...


B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is a heterogeneous disease. Approximately 60% of BCP-ALL present alterations involving chromosome 21 (chr 21), including high hyperdiploid, ETV6‐RUNX1 fusion and intrachromosomal amplification of thechromosome 21 (iAMP21). Contributing with this process, epigenetic mechanisms could regulate the transcription and induce leukemogenesis. Polymorphisms in genes involved in folate metabolism could influence this aberrant methylation. This study aimed to characterize the genetic and DNA methylation profile of BCP-ALL with chr 21 aberrations, as well as to identify the DNA methylation signatures of different BCP-ALL molecular subgroups. This study enrolled 1006 BCP-ALL diagnosed between 2002-2016 and was performed in tree steps: 1) Identification of copy number alterations (CNA) regarding the Chr 21 by multiplex ligation probe amplification (MLPA) and FISH (“LPH012 TEL/AML1 translocation, dual fusion probe and centromere probes to chr 4, 8, 10, 14, 17, 18, X and Y); 2) DNA methylation and CNAcharacterization by DNA methylation array. DNA from BCP-ALL cases, controls and remission samples was modified with EZ DNA Methylation™ Kit and analyzed by the InfiniumHumanMethylation450 BeadChip Kit; 3) Comparative gene methylation, LINE-1 methylation (pyrosequencing) and MTHFR rs1801133 genotype (PCR-RFLP) analysis between the different BCP-ALL subgroups. We found evidence of gains in chr 21 in 83/374 (22%) of the samples analyzed by MLPA. Among the BCP-ALL with chr 21 gains, 11/83 (13%) had ≥5 RUNX1 signals and 53/83 (64%) were classified as hyperdiploid...


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Cromossomos Humanos Par 21/genética , Leucemia Aguda Bifenotípica , Metilação de DNA
6.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-345327

RESUMO

<p><b>OBJECTIVE</b>To investigate the genetic cause and prognosis of a fetus with a rare karyotype.</p><p><b>METHODS</b>Fluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus.</p><p><b>RESULTS</b>The fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3. Whole genome DNA microarray confirmed that there was a 17.87 Mb duplication in the 21q21.3q22.3 region, which involved GATA1, JAK2 and ALL genes and spanned the Down syndrome region. The genes are implicated in craniofacial abnormalities, cardiac abnormalities, mental retardation, growth retardation, limb abnormalities. In addition, there was also an 8.43 Mb deletion in the 4p16.1p16.3 region, which involved FGFR3, LETM1, WHSC1 and WHSC2 and other 64 OMIM genes and spanned the Wolf-Hirschhorn syndrome region. The genes are implicated in growth retardation, craniofacial abnormalities, cardiac abnormalities, mental retardation, and hypotonia. After consultation, the family chose to terminate the pregnancy at 25th week of gestation.</p><p><b>CONCLUSION</b>FISH can help to verify structural chromosome abnormalities suspected by conventional karyotyping analysis. Combined with whole genome microarray, these can determine copy number variation and its region containing the disease genes, and facilitate clinical analysis of the fetus.</p>


Assuntos
Aborto Eugênico , Adulto , Bandeamento Cromossômico , Deleção Cromossômica , Transtornos Cromossômicos , Diagnóstico , Genética , Duplicação Cromossômica , Cromossomos Humanos Par 21 , Genética , Cromossomos Humanos Par 4 , Genética , Variações do Número de Cópias de DNA , Feminino , Doenças Fetais , Diagnóstico , Genética , Aconselhamento Genético , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Gravidez , Diagnóstico Pré-Natal , Métodos
7.
Blood Research ; : 100-105, 2017.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-112845

RESUMO

BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21), defined as the presence of three or more RUNX1 signals on one marker chromosome, is a distinct cytogenetic subgroup of childhood B-cell precursor acute lymphoblastic leukemia (BCP-ALL) that is known to have a poor prognosis when treated with standard therapy. The aim of this study was to evaluate the clinical characteristics of Korean children with iAMP21. METHODS: The cytogenetic data from BCP-ALL children were reviewed. The ETV6/RUNX1 ES Dual Color Probe was used for fluorescence in situ hybridization (FISH). RESULTS: In total, 295 children were included. Of these, 10 patients (3.4%) had iAMP21. The median age of iAMP21 patients was 9 years, and the median value of white blood cell count was 5.09×10⁹/L. Slow early treatment response was observed more in iAMP21 patients. Patients with iAMP21 had a higher incidence of relapse and worse survival rates. In patients with iAMP21, the estimated 10-year cumulative incidence of relapse was 53.3%. The estimated 10-year event-free survival and overall survival rate were 46.7% and 64.8%, respectively. Most cases of leukemic relapse developed in the late period (median, 43 mo). In multivariate analysis, high risk group was the only factor that had a significant impact on death. CONCLUSION: The existence of iAMP21 was related to delayed treatment response and was likely to affect increased relapse and death in the late period. Further studies are needed to reveal its effect on BCP-ALL treatment outcomes and its role as an independent prognostic factor.


Assuntos
Linfócitos B , Criança , Cromossomos Humanos Par 21 , Citogenética , Intervalo Livre de Doença , Fluorescência , Humanos , Hibridização In Situ , Incidência , Contagem de Leucócitos , Análise Multivariada , Leucemia-Linfoma Linfoblástico de Células Precursoras , Prognóstico , Recidiva , Taxa de Sobrevida
9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-345345

RESUMO

Down syndrome is caused by partial or complete triplication of genes located on chromosome 21. Its incidence increases dramatically with the age of women. Hypotheses proposed for this have included abnormal homologous recombination, defective spindle assembly, biological aging, reduction of cohesion complexes, endocrine disorders, oocyte selection model, and single nucleotide polymorphisms of genes that maintain chromosome stability, etc. A literature review is provided here.


Assuntos
Envelhecimento , Genética , Cromossomos Humanos Par 21 , Genética , Síndrome de Down , Genética , Feminino , Humanos , Idade Materna , Oócitos , Metabolismo , Polimorfismo de Nucleotídeo Único , Genética
10.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-59846

RESUMO

BACKGROUND: Intrachromosomal amplification of chromosome 21 (iAMP21) is known to be associated with poor prognosis in B-cell ALL (B-ALL). To determine the frequency and clinical characteristics of iAMP21 in Korean B-ALL patients, we performed FISH and multiplex ligation-dependent probe amplification (MLPA) analyses. METHODS: A total of 102 childhood B-ALL patients were screened with ETV6-RUNX1 FISH probes (Abbott Molecular, USA). The presence of an iAMP21 was confirmed by using MLPA P327 iAMP21-ERG probemix (MRC Holland, The Netherlands). RESULTS: iAMP21 was detected in one of the screened B-ALL patients (1/102 patients, 1.0%) who presented the ALL immunophenotype and complex karyotype at initial diagnosis. The patient relapsed twice after bone marrow transplantation. MLPA showed 12.5-Mb and 4.28-Mb regions of amplification and deletion, respectively. CONCLUSIONS: The frequency of iAMP21 is considerable in Korean pediatric patients. Our report suggests that iAMP21 in childhood B-ALL has very unfavorable impact on patient's prognosis. Additional methods such as MLPA analysis is essential to rule out patients with equivocal interphase FISH results.


Assuntos
Adolescente , Grupo com Ancestrais do Continente Asiático/genética , Linfócitos B/metabolismo , Criança , Pré-Escolar , Cromossomos Humanos Par 21 , Subunidade alfa 2 de Fator de Ligação ao Core/genética , Sondas de DNA/metabolismo , Feminino , Humanos , Imunofenotipagem , Hibridização in Situ Fluorescente , Lactente , Recém-Nascido , Masculino , Reação em Cadeia da Polimerase Multiplex , Leucemia-Linfoma Linfoblástico de Células Precursoras/diagnóstico , Proteínas Proto-Oncogênicas c-ets/genética , Proteínas Repressoras/genética , República da Coreia , Translocação Genética , Adulto Jovem
11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-346190

RESUMO

<p><b>OBJECTIVE</b>To study the relationship between loss of sex chromosomes and prognosis in children with acute myeloid leukemia (AML) M2 subtype.</p><p><b>METHODS</b>According to cytogenetic characteristics, 106 children with AML were divided into three groups: patients with normal karyotype (Group A, n=26), patients with abnormal karyotype who had no loss of sex chromosomes (Group B, n=52), and patients with abnormal karyotype who had loss of sex chromosomes (Group C, n=28). Prognosis was compared between the three groups.</p><p><b>RESULTS</b>The 5-year event-free survival (EFS) rates of Groups A, B, and C were (38.9±11.2)%, (59.3±7.3)%, and (66.5±10.5)%, respectively; the EFS of Group C was significantly higher than that of Group A (P=0.035). The 5-year overall survival (OS) rates of Groups A, B, and C were (54.3±13.5)%, (68.1±7.7)%, and (77.9±9.8)%, respectively (P>0.05). The 5-year EFS of 58 patients with t(8;21) was (63.3±7.3)%, significantly higher than that of patients with normal karyotype (P=0.015). All the 28 cases in Group C had t(8;21), and their 5-year EFS was not significantly different from that of patients with t(8;21) in Group B (P>0.05).</p><p><b>CONCLUSIONS</b>Loss of sex chromosomes is a favorable karyotype in children with AML M2 subtype and the patients in this group mostly have t(8;21). Why loss of sex chromosomes indicates a favorable prognosis is probably because it is accompanied by t(8;21) in the patients.</p>


Assuntos
Adolescente , Criança , Pré-Escolar , Cromossomos Humanos Par 21 , Cromossomos Humanos Par 8 , Feminino , Humanos , Cariótipo , Leucemia Mieloide Aguda , Genética , Mortalidade , Masculino , Prognóstico , Aberrações dos Cromossomos Sexuais , Translocação Genética
12.
Chinese Journal of Hematology ; (12): 676-681, 2015.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-296176

RESUMO

<p><b>OBJECTIVE</b>To explore the clinical features and survival of patients with CD56 expression in de- novo acute myeloid leukemia(AML)with t(8;21). .</p><p><b>METHODS</b>Clinical data of 82 de novo AML with t(8;21)who were newly diagnosed from Jan 2008 to Apr 2014 were analyzed retrospectively, 50 expressed CD56 and 32 not. Clinical characteristics and prognoses were compared between patients expressing and nonexpressing CD56.</p><p><b>RESULTS</b>There were no statistically significant differences in terms of age, gender, white blood cell count(WBC), percentage of bone marrow blasts, extramedullary infiltration rate, the early mortality or the presence of additional cytogenetic abnormalities between CD56 + and CD56- groups(P>0.05). The expressions of lymphatic antigens CD19 between CD56 + and CD56- groups showed significant difference (30.0% vs 53.1% , P=0.036). The complete remission and 3-year overall survival(OS)showed no significant differences between CD56+ and CD56-groups, while 3- year disease- free survival(DFS)showed significant differences(25.8% vs 46.9%, P=0.014). Multivariable analysis for DFS identified CD56 positivity as an independent predictor. DFS of who received allogeneic hematopoietic stem cell transplantation(HSCT)was better than those treated with intermediate- dose cytarabine/high dose cytarabine(IDAC)as postremission therapy.</p><p><b>CONCLUSION</b>The expression of CD56 in de-novo AML with t(8;21) appeared to be associated with poorer prognosis.</p>


Assuntos
Medula Óssea , Antígeno CD56 , Aberrações Cromossômicas , Cromossomos Humanos Par 21 , Cromossomos Humanos Par 8 , Citarabina , Intervalo Livre de Doença , Transplante de Células-Tronco Hematopoéticas , Humanos , Leucemia Mieloide Aguda , Prognóstico , Indução de Remissão , Estudos Retrospectivos , Análise de Sobrevida
13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-288036

RESUMO

<p><b>OBJECTIVE</b>To explore the value of next-generation sequencing for the non-invasive prenatal testing of fetal chromosomal aneuploidies.</p><p><b>METHODS</b>Plasma from 4004 women with singleton pregnancy at a gestational age between 12-35(+5) weeks was collected prior to amniocentesis between April 19th 2011 and December 31st 2013. The samples were divided into three groups: (1) High risk for Down syndrome by biochemical screening; (2) Advanced maternal age; (3) Abnormalities by ultrasound or other methods. Plasma DNA extracted from above samples was sequenced at low coverage. Positive results were verified against the karyotypes of the fetuses. For those with negative results, the fetuses were followed up by telephone call for at least six months after birth.</p><p><b>RESULTS</b>Among 4003 samples subjected to non-invasive prenatal diagnosis, 66 (1.65%) had a positive result. In group 1, 22 cases of trisomy 21 (T21), 3 cases of trisomy 18 (T18), 1 case of 13 trisomy (T13), 8 cases of 45,X and 2 cases of other chromosomal abnormality were detected. In group 2, 13 cases of T21, 2 cases of T18, 1 case of T13, 5 cases of 45,X, 2 cases of 47,XXN and 1 case of other chromosomal abnormality were detected. In group 3, 1 case of T21, 1 case of T18, 1 case of T13, and 3 cases of 47,XXN were detected. For 55 samples underwent prenatal diagnosis, 30 cases of T21 and 4 cases of T18 were discovered, which was consistent with the results of non-invasive prenatal diagnosis. For the 13 cases indicated as 45,X, 3 were verified by karyotype analysis, 2 were verified as mosaicism (45,X/46,XN), 8 were 46,XN (false positives). For the 5 cases indicated as 47,XXN, 2 were verified by karyotype analysis, the other 3 were 46,XN (false positives). Karyotypes of 3 cases suspected for other chromosomal abnormalities were all verified as 46,XN (false positive). Until May 1st 2014, telephone follow-up for those with negative screening results only identified a boy with facial abnormalities and developmental delay, which was similar to his older sister, combined karyotyping and fluorescence in situ hybridization analysis has verified the karyotype of the boy as 46,XY,rec(14)dup(14q)inv(14)(p12q14)pat.</p><p><b>CONCLUSION</b>Our results indicated that sequencing of plasma free DNA can rapidly detect fetal chromosomal aneuploidies. The method is non-invasive, and the results are highly consistent with karyotype analysis in terms of accuracy and specificity. Non-invasive testing can be used as an effective adjunct to conventional prenatal diagnostic methods, which can greatly reduce unnecessary invasive prenatal diagnosis. However, the sensitivity and accuracy for aneuploidy detection other than chromosome 13/18/21 still need to be improved.</p>


Assuntos
Adulto , Aneuploidia , Grupo com Ancestrais do Continente Asiático , Genética , China , Cromossomos Humanos Par 18 , Genética , Cromossomos Humanos Par 21 , Genética , Cromossomos Humanos Par 8 , Genética , Síndrome de Down , Diagnóstico , Embriologia , Genética , Feminino , Doenças Fetais , Diagnóstico , Genética , Sequenciamento de Nucleotídeos em Larga Escala , Métodos , Humanos , Lactente , Masculino , Linhagem , Gravidez , Diagnóstico Pré-Natal , Métodos
15.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-239461

RESUMO

<p><b>OBJECTIVE</b>To explore the effect of MTHFR and MTRR genes polymorphisms on chromosomes 18 and 21 non-disjunction through investigation of Henan Han Chinese young females with a gestational history of trisomy 21 (Down syndrome, DS) or trisomy 18 (Edwards syndrome, ES).</p><p><b>METHODS</b>Polymorphisms of MTHFR 677C/T, MTHFR 1298A/C and MTRR 66A/G were analyzed in 73 healthy females (controls group), 78 females with a gestational history of DS (DS group) and 54 females with a gestational history of ES (ES group) by direct sequencing of PCR products from amplification of peripheral blood lymphocyte DNA.</p><p><b>RESULTS</b>The frequency of MTHFR 677T allele was significantly different among the DS group, ES group and the control group (P<0.05). The frequency of MTRR 66G allele was significantly different only between the DS group and the control group (P<0.05). MTHFR 1298A/C polymorphisms were not associated with either ES or DS. Compared with the wild genotype MTHFR 677CC or MTRR 66AA, carriers of the MTHFR 677CT, 677TT, or MTRR 66GG genotypes had respectively 2.694 times (95%CI: 1.204-6.025, P<0.05), 5.451 times (95%CI: 2.211-13.435, P<0.05) and 9.618 times (95%CI: 2.085-44.365, P<0.05) risk of bearing a DS baby. Compared with the wild genotype MTHFR 677CC, carriers of the MTHFR 677CT and 677TT genotype had respectively 2.701 times (95%CI: 1.133-6.438, P<0.05) and 3.804 times (95%CI: 1.406-10.293, P<0.05) risk of bearing a ES baby. Neither MTRR 66AG or 66GG genotype was associated with the occurrence of ES.</p><p><b>CONCLUSION</b>The MTHFR 677T and MTRR 66G may represent a risk factor for DS gestation, while MTHFR 677T may represent a risk factor for ES gestation for Chinese Han females.</p>


Assuntos
Adulto , Grupo com Ancestrais do Continente Asiático , Etnologia , Genética , Estudos de Casos e Controles , China , Cromossomos Humanos Par 18 , Genética , Cromossomos Humanos Par 21 , Genética , Síndrome de Down , Etnologia , Genética , Feminino , Ferredoxina-NADP Redutase , Genética , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2) , Genética , Polimorfismo de Nucleotídeo Único , Trissomia , Genética , Síndrome da Trissomía do Cromossomo 18 , Adulto Jovem
16.
Bogotá; IETS; dic. 2014.
Não convencional em Espanhol | LILACS (Américas), BRISA | ID: biblio-875818

RESUMO

INTRODUCCIÓN: la enfermedad de Alzheimer (EA) es una enfermedad neurodegenerativa de evolución progresiva que representa el tipo más común de demencia. El riesgo de presentar enfermedad de Alzheimer familiar (EAF) puede aumentar 2 a 4 veces entre los individuos que tienen un familiar de primer grado con la enfermedad, para la cual se han identificado mutaciones en tres genes, definidas como causales (PSEN-1, PSEN-2 y APP). OBJETIVO: evaluar la utilidad del estudio molecular de los genes PSEN-1, PPA, PSEN-2 (cromosomas 14, 21 y 1) en el diagnóstico de enfermedad de Alzheimer de inicio temprano (EAIT). METODOLOGÍA: se realizó una búsqueda de evidencia en las bases de datos: MEDLINE, EMBASE, la Librería Cochrane y LILACS. Dos evaluadores de manera independiente, tamizaron las referencias obtenidas, resolviendo las discrepancias por consenso. Se identificaron únicamente estudios descriptivos, a partir de los cuales se basan los resultados del presente informe. RESULTADOS: se identificaron 5 estudios descriptivos. Los estudios confirman la identificación de los 3 genes determinantes en la aparición de la enfermedad de EAIT; las mutaciones más frecuentemente identificadas son las pertenecientes al gen PSEN-1. CONCLUSIONES: el estudio molecular de los genes PSEN-1, PSEN-2 y PPA en pacientes con demencia de inicio temprano (< de 65 años) e historia familiar de demencia, se considera el patrón de oro para el diagnóstico de EAIT de transmisión autosómico dominante.(AU)


Assuntos
Humanos , Doença de Alzheimer/diagnóstico , Doença de Alzheimer/genética , Cromossomos Humanos Par 14/genética , Cromossomos Humanos Par 1/genética , Cromossomos Humanos Par 21/genética , Avaliação da Tecnologia Biomédica , Colômbia
17.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-291686

RESUMO

<p><b>OBJECTIVE</b>To investigate clinical phenotype and genetic characteristics of a 30-year-old infertile female carrying a mosaic ring 21 chromosome.</p><p><b>METHODS</b>A combination of techniques including G-banding, C-banding, fluorescence in situ hybridization (FISH) and SNP array were performed to investigate the breaking point of the r(21).</p><p><b>RESULTS</b>The karyotype of the patient was mos 46,XX,r(21)[166]/46, XX,der(21)[60]/45, XX, -21[20]/46, XX,dic r(21)[4].ish del(21)(q22.2?)(21qter-, AML1+, D21S259/D21S341/D21S342+). arr 21q22.3(43 457 934-48 093 361) × 1, 21q22.2q22.3(40 218 429-43 457 934)× 1-2. The karyotypes of her parents were both normal.</p><p><b>CONCLUSION</b>Clinical phenotypes of patients carrying a ring 21 mainly depends on the percentage of abnormal cells and the deleted chromosomal fragment. The small uterus and oligomenorrhea in our patient may be attributed to the mosaic ring 21 chromosome.</p>


Assuntos
Adulto , Bandeamento Cromossômico , Deleção Cromossômica , Cromossomos Humanos Par 21 , Genética , Feminino , Humanos , Hibridização in Situ Fluorescente , Infertilidade Feminina , Diagnóstico , Genética , Cariotipagem , Cromossomos em Anel
18.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-349692

RESUMO

This study was purposed to analyse the clinical efficacy of autologous peripheral blood stem cell transplantation (APBSCT) in 13 Patients with AML1/ETO (+) acute myeloid leukemia, and to evaluate the role of quantitative detecting the AML1/ETO gene in treatment of AML patients. A total of 13 patients with AML1/ETO (+) acute myeloid leukemia treated with APBSCT from August 2007 to November 2012 were retrospectively analyzed. The median follow-up time was 26 (7.8-75.8)months. Kaplan-Meier analysis was used to calculate the overall survival (OS), leukemia-free survival (LFS) and cumulative relapse rate (RR). Log rank method was used to perform univariate analysis. The results showed that the 3 year-OS, LFS, and RR were (70.5 ± 15.3)%, (51.3 ± 16.7)%, 48.7%, respectively. The AML1/ETO expression level in 4 cases out of 5 relapsed patients was quantified during and after therapy, and the result showed that AML1/ETO expression level significantly increased before morphological relapse. In univariate analysis, there was no statistic significance in terms of age, sex, count of white blood cells at diagnosis, interval from diagnosis to transplantation, count of MNC for infusion. It is concluded that APBSCT has good therapeutic effect on AML1/ETO (+) AML, and regular quantitative monitoring of AML1/ETO expression level can predict early recurrence. Allogeneic hematopoietic stem cell transplantation after relapse may contribute to obtain opportunity to achieve the long-term survival for intermediate and high risk patients.


Assuntos
Adolescente , Adulto , Cromossomos Humanos Par 21 , Subunidade alfa 2 de Fator de Ligação ao Core , Genética , Feminino , Humanos , Leucemia Mieloide Aguda , Genética , Terapêutica , Masculino , Pessoa de Meia-Idade , Proteínas de Fusão Oncogênica , Genética , Transplante de Células-Tronco de Sangue Periférico , Proteína 1 Parceira de Translocação de RUNX1 , Transplante Autólogo , Adulto Jovem
19.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-302367

RESUMO

This study was aimed to investigate the clinical characteristics of acute myeloid leukemia (AML) with t (8;21) (q22;q22) and loss of Y chromosomes. Clinical data of 267 cases of AML were collected from January 2010 to June 2013. Among 267 AML, there were 13 cases with t (8;21) (q22;q22) and loss of Y chromosomes. The clinical data including clinical indicators, treatment protocols, curative effect and prognosis were analyzed retrospectively. The results showed that after normalized chemotherapy, there were 4 patients with complete remission at the first cycle of treatment, 4 patients with complete remission at the second cycle, 4 patients with complete remission at the third cycle, but one patient without complete remission after 4 cycles. There were 6 patients who did not relapse during consolidation and intensive therapy. Among these 6 patients, 4 cases accepted chemotherapy combined with transplantation, other 2 cases accepted chemotherapy. In the remainder 6 patients, 4 cases relapsed once, one cases relapsed twice, 1 cases relapsed for three times. Moreover, 2 cases who accepted the chemotherapy and auto-hematopoietic stem cell trans-plantation, were diagnosed as relapse, after accepted allo-hematopoietic stem cell transplantation, currently are in disease-free status. In follow-up period, the relapse-free survival (RFS) time was 4.67 ± 3.45 months in chemotherapy group, the RFS time is 34.17 ± 21.37 months in chemotherapy and transplantation group. The chemotherapy combined with transplantation extended the RFS time (P < 0.05). It is concluded that the NCCN guide indicates that AML with t (8;21) ( q22;q22) showed a good prognosis. but the clinical course of treatment confirmed that the prognosis of AML patients with t (8;21) (q22;q22) and loss Y chromosomes is poor, including uneasy remission and easy relapse, for improving the prognosis of these patients, the hematopoietic stem cell transplantation should be recommended.


Assuntos
Adolescente , Adulto , Criança , Deleção Cromossômica , Cromossomos Humanos Par 21 , Cromossomos Humanos Par 8 , Cromossomos Humanos Y , Feminino , Humanos , Leucemia Mieloide Aguda , Genética , Terapêutica , Masculino , Pessoa de Meia-Idade , Recidiva , Indução de Remissão , Estudos Retrospectivos , Translocação Genética , Adulto Jovem
20.
Chinese Medical Journal ; (24): 1897-1901, 2014.
Artigo em Inglês | WPRIM (Pacífico Ocidental) | ID: wprim-248084

RESUMO

<p><b>BACKGROUND</b>Amniotic fluid (AF) supernatant contains cell-free fetal DNA (cffDNA) fragments. This study attempted to take advantage of cffDNA as a new material for prenatal diagnosis, which could be combined with simple quantitative fluorescent polymerase chain reaction (QF-PCR) to provide an ancillary method for the prenatal diagnosis of trisomy 21 syndrome.</p><p><b>METHODS</b>AF supernatant samples were obtained from 27 women carrying euploid fetuses and 28 women carrying aneuploid fetuses with known cytogenetic karyotypes. Peripheral blood samples of the parents were collected at the same time. Short tandem repeat (STR) fragments on chromosome 21 were amplified by QF-PCR. Fetal condition and the parental source of the extra chromosome could be determined by the STR peaks.</p><p><b>RESULTS</b>The sensitivity of the assay for the aneuploid was 93% (26/28; confidence interval, CI: 77%-98%) and the specificity was 100% (26/26; CI: 88%-100%). The determination rate of the origin of the extra chromosome was 69%. The sensitivity and the specificity of the assay in the euploid were 100% (27/27).</p><p><b>CONCLUSIONS</b>Trisomy 21 can be prenatally diagnosed by the QF-PCR method in AF supernatant. This karyotype analysis method greatly reduces the requirement for the specimen size. It will be a benefit for early amniocentesis and could avoid pregnancy complications. The method may become an ancillary method for prenatal diagnosis of trisomy 21.</p>


Assuntos
Líquido Amniótico , Metabolismo , Cromossomos Humanos Par 21 , Genética , Síndrome de Down , Diagnóstico , Genética , Feminino , Humanos , Repetições de Microssatélites , Genética , Reação em Cadeia da Polimerase , Métodos , Gravidez , Diagnóstico Pré-Natal , Métodos
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