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1.
Water Res ; 253: 121227, 2024 Apr 01.
Artículo en Inglés | MEDLINE | ID: mdl-38377921

RESUMEN

The mechanisms and by-product formation of electrochemical oxidation (EO) for As(III) oxidation in drinking water treatment using groundwater was investigated. Experiments were carried out using a flowthrough system, with an RuO2/IrO2 MMO Ti anode electrode, fed with synthetic and natural groundwater containing As(III) concentrations in a range of around 75 and 2 µg/L, respectively. Oxidation was dependent on charge dosage (CD) [C/L] and current density [A/m2], with the latter showing plateau behaviour for increasing intensity. As(III) concentrations of <0.3 µg/L were obtained, indicating oxidation of 99.9 % of influent As(III). Achieving this required a higher charge dosage for the natural groundwater (>40 C/L) compared to the oxidation in the synthetic water matrix (20 C/L), indicating reaction with natural organic matter or other compounds. As(III) oxidation in groundwater required an energy consumption of 0.09 and 0.21 kWh/m3, for current densities of 20 and 60 A/m2, respectively. At EO settings relevant for As(III) oxidation, in the 30-100 C/L CD range, the formation of anodic by-products, as trihalomethanes (THMs) (0.11-0.75 µg/L) and bromate (<0.2 µg/L) was investigated. Interestingly, concentrations of the formed by-products did not exceed strictest regulatory standards of 1 µg/L, applicable to Dutch tap water. This study showed the promising perspective of EO as electrochemical advanced oxidation process (eAOP) in drinking water treatment as alternative for the conventional use of strong oxidizing chemicals.


Asunto(s)
Arsenitos , Agua Potable , Agua Subterránea , Contaminantes Químicos del Agua , Purificación del Agua , Contaminantes Químicos del Agua/química , Oxidación-Reducción , Agua Subterránea/química
2.
Reprod Biomed Soc Online ; 13: 85-97, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34381885

RESUMEN

Fertility experts have advocated addressing preventable causes of infertility and early intervention. However, awareness of risk factors is low, especially in low- and middle-income countries where the prevalence of infertility is high. To address this lack of awareness, the Fertility Awareness Tool (FertiSTAT) was adapted for use in Sudan and other low-resource countries. The aims of this study were to ascertain the need for fertility education in Sudan (Aim 1), and to gauge the acceptability and feasibility of implementing the FertiSTAT in Sudan (Aim 2), both from the patients' perspective. Convenience sampling was used to recruit participants for semi-structured-in-depth interviews from a fertility clinic in Sudan. We collected sociodemographic information, medical and reproductive history, asked about fertility knowledge, administered the FertiSTAT and asked about the acceptability of the FertiSTAT. Thematic analysis was conducted for qualitative data. Twenty participants were included; of these, 17 were female, 13 were educated beyond secondary school, the mean age was 32.8 years, and the mean duration of infertility was 4.1 years. Ten themes emerged: of these, three themes addressed Aim 1: 'desire for fertility information', 'state of fertility knowledge' and 'benefits of fertility education'; and seven themes addressed Aim 2: 'specific suggestions for the tool', 'factors influencing the acceptability and feasibility of implementing the tool', 'challenges and barriers to implementation', 'self-disclosure', 'understanding of being at risk', 'compatibility with worldview' and 'cultural tailoring'. Fertility education was viewed as necessary and beneficial; however, participants thought that lack of acceptability of sensitive topics would hinder the implementation of the FertiSTAT. Acceptability and feasibility would be enhanced if challenges were addressed in a culturally sensitive manner using cultural tailoring of materials to increase compatibility with individual worldviews.

3.
Reprod Biomed Soc Online ; 6: 10-21, 2018 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-30186978

RESUMEN

The World Health Organization (WHO) and World Bank have identified infertility as a global public health issue. Since the 1980s, WHO has advocated for a focus on prevention, especially where the burden of prevalence is highest, specifically in women from low- and middle-income countries (LMIC). The aim of the two studies presented here is to demonstrate a process to enhance implementation efforts in fertility awareness programmes that could assist in preventing some forms of infertility, and increase understanding of factors that could result in fertility problems. The fertility status awareness tool (FertiSTAT) for the Middle East was adapted to provide an illustrative example of requirements for region- or country-specific adaptation. The mixed methods approach used included a survey of international medical experts concerning the comprehensiveness of risks included in the original FertiSTAT (Study I), and stakeholder meetings to assess the feasibility and acceptability of using an adapted FertiSTAT in the Middle East (Study II). The results indicate that the content of the original FertiSTAT was acceptable but not comprehensive in its coverage of potential risk factors; for example, it did not include genital tuberculosis, human immunodeficiency virus, consanguineous relationships and female genital mutilation/cutting. Furthermore, stakeholder meetings revealed that implementation in the Middle East would be enhanced by the use of more culturally sensitive wording. The data highlight the importance of implementation research with participants from LMIC, and the need for standardized protocols for adaptation of any fertility awareness programme or tool before practical application.

4.
Hum Reprod ; 33(6): 1158-1166, 2018 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-29579247

RESUMEN

STUDY QUESTION: Is HIV associated with increased time to pregnancy (TTP)? SUMMARY ANSWER: HIV-positive women who discontinue a contraceptive method to become pregnant have increased TTP, particularly among those who likely do not know their status. WHAT IS KNOWN ALREADY: HIV-positive women have fewer children on average than their HIV-negative counterparts due to both behavioral and biological factors. There is a need to better describe and quantify fecundity patterns associated with HIV in the general population. STUDY DESIGN, SIZE, DURATION: This cross-sectional study was based on data from 12 Demographic and Health Surveys (DHSs) conducted between 2003 and 2013 in 11 African countries. All studies collected dried blood spot samples for HIV testing and included a retrospective calendar module that recorded women's monthly reproductive status in the 5 years preceding the survey. TTP was measured among 3181 women discontinuing a contraceptive method within 2 years of the survey in order to become pregnant. PARTICIPANTS/MATERIALS, SETTING, METHODS: We use Cox proportional hazard models for discrete survival data to model TTP and estimate fecundability odds ratios (FOR) and 95% CIs for the 12-month period following contraceptive discontinuation. In addition to employing a binary measure of HIV status, we also develop an additional explanatory measure that combines HIV status with information on whether respondents had ever been tested for HIV and received their results (which proxies for knowledge of HIV status) to reduce the threat of confounding from behavioral changes following an HIV diagnosis. MAIN RESULTS AND THE ROLE OF CHANCE: In our sample, 10.3% of women were HIV-positive, and a little more than half (51.8%) of women received test results and likely knew their status. Over a 12-month observation period, HIV-positive women had a 25% average reduction in fecundity compared to HIV-negative women [adjusted FOR (aFOR) = 0.75 (0.62-0.92)] after adjusting for confounders. The 12-month fecundity patterns differed by women's likely knowledge of their status such that results were primarily driven by HIV-positive women who likely did not know their status. Moreover, reductions in fecundity attributable to HIV were not uniform over time. Among women who were still trying for pregnancy after 3 unsuccessful months, HIV-positive women had half the odds of becoming pregnant compared to HIV-negative women [aFOR = 0.50 (0.35-0.71)]. Conversely, there were no significant differences in FORs between HIV-negative and HIV-positive women in the first 3 months. LIMITATIONS REASONS FOR CAUTION: Because dried blood spot samples for HIV testing were collected at the time of the survey but reproductive calendar data were collected retrospectively, it is possible that we introduced misclassification bias, as we have no knowledge if the acquisition of HIV occurred before or after pregnancy attempt. WIDER IMPLICATIONS OF THE FINDINGS: As life expectancy and quality health status improve due to earlier initiation of antiretroviral (ARV) treatment in HIV-positive women, there has been growing awareness that services should also address the fertility desires of HIV-positive women who want children. These findings indicate that if a pregnancy does not occur after 3 months of attempting pregnancy, HIV-positive women and HIV-discordant couples should request access to HIV and reproductive pre-pregnancy counseling and health assessments. STUDY FUNDING/COMPETING INTEREST(S): A.G. was supported by the National Institutes of Health (contract T32-HD007275) during the study. During the conceptualization, data collection and analysis time frame, S.vdP. was supported by WHO/RHR/HRP Special Program in Reproductive Health and Research, Geneva, Switzerland, and HRP (the UNDP/UNFPA/UNICEF/WHO/World Bank Special Programme of Research, Development and Research Training in Human Reproduction). The authors have no conflicts of interest to declare.


Asunto(s)
Seropositividad para VIH/epidemiología , Infertilidad Femenina/epidemiología , Tiempo para quedar Embarazada , Adulto , África , Estudios de Casos y Controles , Conducta Anticonceptiva/estadística & datos numéricos , Estudios Transversales , Femenino , Conocimientos, Actitudes y Práctica en Salud , Humanos , Embarazo , Modelos de Riesgos Proporcionales , Adulto Joven
5.
Ultrasound Obstet Gynecol ; 49(5): 583-591, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-27731533

RESUMEN

OBJECTIVES: Blastocyst transfer in assisted reproduction techniques could be advantageous because the timing of exposure of the embryo to the uterine environment is more analogous to a natural cycle and permits embryo self-selection after activation of the embryonic genome on day 3. Conversely, the in-vitro environment is likely to be inferior to that in vivo, and in-vitro culture beyond embryonic genomic activation could potentially harm the embryo. Our objective was to identify, appraise and summarize the available evidence comparing the effectiveness of blastocyst vs cleavage-stage embryo transfer. METHODS: This was a systematic review and meta-analysis of randomized controlled trials (RCTs) comparing the transfer of blastocysts (days 5-6) with the transfer of cleavage-stage embryos (days 2-3) in women undergoing in-vitro fertilization or intracytoplasmic sperm injection. The last electronic searches were run on 1 August 2016. Abstracts and studies with a mean difference between the two study groups of > 0.5 for the number of embryos transferred were excluded. RESULTS: We screened 1187 records and assessed 33 potentially eligible studies. Twelve studies were included, comprising a total of 1200 women undergoing blastocyst transfer and 1218 undergoing cleavage-stage embryo transfer. We observed low-quality evidence of no significant difference of blastocyst transfer on live birth/ongoing pregnancy (relative risk (RR), 1.11 (95% CI, 0.92-1.35), 10 RCTs, 1940 women, I2 = 54%), clinical pregnancy (RR, 1.10 (95% CI, 0.93-1.31), 12 RCTs, 2418 women, I2 = 64%), cumulative pregnancy (RR, 0.89 (95% CI, 0.67-1.16), four RCTs, 524 women, I2 = 63%) and miscarriage (RR, 1.08 (95% CI, 0.74-1.56), 10 RCTs, 763 pregnancies, I2 = 0%). There was moderate-quality evidence of a decrease in the number of women with surplus embryos after the blastocyst-stage embryo transfer (RR, 0.78 (95% CI, 0.66-0.91)). Overall, the quality of the evidence was limited by the quality of the included studies and by unexplained inconsistency across studies. CONCLUSIONS: Current evidence shows no superiority of blastocyst compared with cleavage-stage embryo transfer in clinical practice. As the quality of the evidence for the primary outcomes is low, additional well-designed RCTs are still needed before robust conclusions can be drawn. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.


Asunto(s)
Blastocisto , Fase de Segmentación del Huevo/trasplante , Transferencia de Embrión , Femenino , Humanos , Embarazo , Resultado del Embarazo , Índice de Embarazo , Embarazo Múltiple
6.
Hum Reprod ; 31(11): 2561-2569, 2016 11.
Artículo en Inglés | MEDLINE | ID: mdl-27907898

RESUMEN

STUDY QUESTION: Is blastocyst transfer safe when compared to cleavage stage embryo transfer regarding obstetric and perinatal outcomes? SUMMARY ANSWER: The clinical equipoise between blastocyst and cleavage stage embryo transfer remains as the evidence associating blastocyst transfer with some adverse perinatal outcomes is of low/very low quality. WHAT IS KNOWN ALREADY: Extended embryo culture to the blastocyst stage provides some theoretical advantages and disadvantages. While it permits embryo self-selection, it also exposes those embryos to possible harm due to the in vitro environment. Both effectiveness and safety should be weighed to permit evidence-based decisions in clinical practice. STUDY DESIGN, SIZE, DURATION: This is a systematic review and meta-analysis of randomized controlled trials (RCTs) and observational studies reporting perinatal outcomes for singletons comparing the deliveries resulting from blastocyst and cleavage stage embryo transfer. Observational studies were included because the primary outcomes, perinatal mortality and birth defects, are rare and require a large number of participants (>50 000) to be properly assessed. The last electronic searches were last run on 11 March 2016. PARTICIPANTS/MATERIALS, SETTING, METHOD: There were 12 observational studies encompassing 195 325 singleton pregnancies included in the study. No RCT reported the studied outcomes. The quality of the included studies was evaluated according to the Newcastle-Ottawa Scale and the quality of the evidence was evaluated according to GRADE criteria. MAIN RESULTS AND THE ROLE OF CHANCE: Blastocyst stage transfer was associated with increased risks of preterm birth (<37 weeks), very preterm birth (<32 weeks), large for gestational age and perinatal mortality, although the latter was only identified from one study. Conversely, blastocyst stage transfer was associated with a decrease in the risks of small for gestational age and vanishing twins, although the latter was reported by only one study. LIMITATIONS, REASONS FOR CAUTION: The observational nature of the included studies and some inconsistency and imprecision in the analysis contributed to decreasing our confidence in the estimates. WIDER IMPLICATIONS OF THE FINDINGS: Due to the overall low quality of available evidence, the clinical equipoise between cleavage stage and blastocyst transfer remains. More large well-conducted studies are needed to clarify the potential risks and benefits of blastocyst transfer. As this review was initiated to support global recommendations on best practice, and in light of the challenges in lower resource settings to offer extended culture to blastocyst stage, it is critical to take into consideration these obstetric and neonatal outcomes in order to ensure any recommendation will not result in the overburdening of existing maternal and child health care systems and services. STUDY FUNDING/COMPETING INTERESTS: No external funding was either sought or obtained for this study. The authors have no competing interests to declare. PROSPERO REGISTRATION NUMBER: CRD42015023910.


Asunto(s)
Blastocisto , Fase de Segmentación del Huevo/trasplante , Transferencia de Embrión/métodos , Femenino , Humanos , Nacimiento Vivo , Embarazo , Resultado del Embarazo , Índice de Embarazo
7.
BJOG ; 121 Suppl 5: 79-86, 2014 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25335844

RESUMEN

HIV-affected couples face unique challenges that require access to information and reproductive services to prevent HIV transmission to the uninfected partner and offspring while allowing couples to fulfil their reproductive goals. In regions of high HIV prevalence in sub-Saharan Africa, HIV-affected couples require multipurpose prevention technologies (MPTs) to enhance their reproductive healthcare options beyond contraception and prevention of HIV/sexually transmitted infections (STIs) to include assistance in childbearing. The unique characteristics of the condom and its accepted use in conjunction with safer conception interventions allow HIV-serodiscordant couples an opportunity to maintain reproductive health, prevent HIV/STI transmission, and achieve their reproductive goals while timing conception. Re-thinking the traditional view of the condom and incorporating a broader reproductive health perspective of HIV-affected couples into MPT methodologies will impact demand, acceptability and uptake of these future technologies.


Asunto(s)
Infecciones por VIH/prevención & control , Transmisión Vertical de Enfermedad Infecciosa/prevención & control , África del Sur del Sahara , Condones , Femenino , Infecciones por VIH/transmisión , Promoción de la Salud , Accesibilidad a los Servicios de Salud , Humanos , Salud Reproductiva
8.
Hum Reprod ; 24(11): 2683-7, 2009 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-19801627

RESUMEN

BACKGROUND: Many definitions used in medically assisted reproduction (MAR) vary in different settings, making it difficult to standardize and compare procedures in different countries and regions. With the expansion of infertility interventions worldwide, including lower resource settings, the importance and value of a common nomenclature is critical. The objective is to develop an internationally accepted and continually updated set of definitions, which would be utilized to standardize and harmonize international data collection, and to assist in monitoring the availability, efficacy, and safety of assisted reproductive technology (ART) being practiced worldwide. METHOD: Seventy-two clinicians, basic scientists, epidemiologists and social scientists gathered together at the WHO headquarters in Geneva, Switzerland in December, 2008. Several months in advance, three working groups were established which were responsible for terminology in three specific areas: clinical conditions and procedures, laboratory procedures and outcome measures. Each group reviewed the existing ICMART glossary, made recommendations for revisions and introduced new terms to be considered for glossary expansion. RESULTS: A consensus was reached on 87 terms, expanding the original glossary by 34 terms, which included definitions for numerous clinical and laboratory procedures. Special emphasis was placed in describing outcome measures such as cumulative delivery rates and other markers of safety and efficacy in ART. CONCLUSIONS: Standardized terminology should assist in analysis of worldwide trends in MAR interventions and in the comparison of ART outcomes across countries and regions. This glossary will contribute to a more standardized communication among professionals responsible for ART practice, as well as those responsible for national, regional and international registries.


Asunto(s)
Agencias Internacionales , Técnicas Reproductivas Asistidas , Terminología como Asunto , Organización Mundial de la Salud
9.
Hematol J ; 2(3): 206-9, 2001.
Artículo en Inglés | MEDLINE | ID: mdl-11920247

RESUMEN

INTRODUCTION: The chromosome rearrangements inv(16)(p13q22) or t(16;16)(p13;q22) are present in approximately 10% of all cases with de novo acute myeloid leukemia and define a subgroup with a favorable prognosis. Both aberrations result in a CBFB-MYH11 fusion gene that can be detected by RT-PCR. PATIENTS AND METHODS: To date, a total of 10 different in-frame CBFB-MYH11 fusion transcripts have been identified. A newly described transcript can not be amplified with the commonly used PCR primers since the MYH11 junction is located outside the amplified region (MYH11 cDNA position 2134). RESULTS: We describe here a robust two-step RT-PCR assay that reliably detects all known CBFB-MYH11 transcripts types, including the new variant. CONCLUSION: Because all previously established RT-PCR protocols may miss the new CBFB-MYH11 transcript, we propose to use the improved RT-PCR approach described here for the reliable detection of all known CBFB-MYH11 fusion transcripts.


Asunto(s)
Biomarcadores de Tumor/genética , Inversión Cromosómica , Cromosomas Humanos Par 16/genética , Leucemia Mielomonocítica Aguda/genética , Proteínas de Fusión Oncogénica/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Cromosomas Humanos Par 16/ultraestructura , Análisis Mutacional de ADN , Cartilla de ADN , Humanos , Leucemia Mielomonocítica Aguda/diagnóstico , Masculino , Persona de Mediana Edad , Pronóstico , Translocación Genética
11.
Mech Dev ; 47(3): 213-23, 1994 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-7531482

RESUMEN

Three maternal cadherins have been reported to occur in the pregastrula Xenopus embryo. EP- and XB-cadherin are distinguished by their distinct cDNA sequences. U-cadherin has been characterized by its reaction with a specific monoclonal antibody (mAb 6D5). Thus far, lack of specific probes that discriminate between these molecules has prevented their identification as distinct cadherins. We now demonstrate by means of RNase protection assays that both EP- and XB-cadherin mRNAs are present in oocytes and mature eggs. By use of the Xenopus cadherin proteins expressed in mammalian cell lines, we find that mAb 6D5 crossreacts with XB-cadherin, but not with EP-cadherin. The major fraction of the maternal cadherins does not contain the 6D5 epitope and probably represents EP-cadherin. A minor fraction carries the 6D5 epitope indicative for the XB- and U-type of cadherins. We have termed this fraction XB/U-cadherin. The function of maternal cadherins was examined by in vitro cell adhesion assays. A newly developed antiserum with a broad specificity for various Xenopus cadherins efficiently blocks all calcium dependent cell adhesion in the early embryo. We conclude that the maternal cadherins play a central role in interblastomere adhesion in the early embryo and comprise at least two discrete cadherin forms, EP- and XB/U-cadherin.


Asunto(s)
Cadherinas/análisis , Secuencia de Aminoácidos , Animales , Anticuerpos Monoclonales , Epítopos , Femenino , Datos de Secuencia Molecular , Ribonucleasas , Xenopus
12.
N Engl J Med ; 329(13): 909-14, 1993 Sep 23.
Artículo en Inglés | MEDLINE | ID: mdl-8361504

RESUMEN

BACKGROUND: Translocations involving chromosome band 11q23 are very frequent in both acute lymphoblastic and acute myeloid leukemias and are the most common genetic alteration in infants with leukemia. In all age groups and all phenotypes of leukemia, an 11q23 translocation carries a poor prognosis. A major question has been whether one or several genes on band 11q23 are implicated in these leukemias. Previously, we identified the chromosomal breakpoint region in leukemias with the common 11q23 translocations and subsequently cloned a gene named MLL that spans the 11q23 breakpoint. METHODS: We isolated a 0.74-kb BamHI fragment from a complementary DAN (cDNA) clone of the MLL gene. To determine the incidence of MLL rearrangements in patients with 11q23 abnormalities, we analyzed DNA from 61 patients with acute leukemia, 3 cell lines derived from such patients, and 20 patients with non-Hodgkin's lymphoma and 11q23 aberrations. RESULTS: The 0.74-kb cDNA probe detected DNA rearrangements in the MLL gene in 58 of the patients with leukemia, in the 3 cell lines, and in 3 of the patients with lymphoma. All the breaks occurred in an 8.3-kb breakpoint cluster region within the MLL gene. The probe identified DNA rearrangements in all 48 patients with the five common 11q23 translocations involving chromosomes 4, 6, 9, and 19, as well as in 16 patients with uncommon 11q23 aberrations. Twenty-one different chromosomal breakpoints involving the MLL gene were detected. CONCLUSIONS: MLL gene rearrangements were detected with a single probe and a single restriction-enzyme digest in all DNA samples from patients with the common 11q23 translocations as well as in 16 patients or cell lines with other 11q23 anomalies. The ability to detect an MLL gene rearrangement rapidly and reliably, especially in patients with limited material for cytogenetic analysis, should make it possible to identify patients who have a poor prognosis and therefore require aggressive chemotherapy or marrow transplantation.


Asunto(s)
Cromosomas Humanos Par 11 , Reordenamiento Génico , Leucemia Mieloide/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Translocación Genética , Enfermedad Aguda , Adolescente , Niño , Preescolar , ADN de Neoplasias/genética , Femenino , Humanos , Linfoma/genética , Linfoma no Hodgkin/genética , Masculino , Células Tumorales Cultivadas
13.
Proc Natl Acad Sci U S A ; 89(24): 11794-8, 1992 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-1465401

RESUMEN

Recurring chromosomal abnormalities involving translocations at chromosome 11 band q23 are associated with human myeloid and lymphoid leukemia as well as lymphoma. We have identified the gene located at this break-point and have named it MLL (for myeloid-lymphoid, or mixed-lineage, leukemia). The t(4;11), t(6;11), t(9;11), and t(11;19) are among the most common reciprocal translocations in leukemia cells involving this chromosomal band. We now have evidence that the breakpoints in all of these translocations are clustered within a 9-kilobase (kb) BamHI genomic region of the MLL gene. By Southern blot hybridization using a 0.7-kb BamHI cDNA fragment of the MLL gene called MLL 0.7B, we have detected rearrangements of DNA from cell lines and patient material with an 11q23 translocation in this region. Northern blot analyses indicate that this gene has multiple transcripts, some of which appear to be lineage-specific. In normal pre-B cells, four transcripts of 12.5, 12.0, 11.5, and 2.0 kb are detected. These transcripts are also present in monocytoid cell lines with additional hybridization to a 5.0-kb transcript, indicating that expression of different-sized MLL transcripts may be associated with normal hematopoietic lineage development. In a cell line with a t(4;11), the expression of the 12.5-, 12.0-, and 11.5-kb transcripts is reduced, and there is evidence of three other altered transcripts of 11.5, 11.25, and 11.0 kb. Thus, these 11q23 translocations result in rearrangements of the MLL gene and may lead to altered function(s) of MLL and of other gene(s) involved in the translocation.


Asunto(s)
Aberraciones Cromosómicas/genética , Cromosomas Humanos Par 11 , Leucemia/genética , Trastornos de los Cromosomas , Clonación Molecular , Expresión Génica , Reordenamiento Génico , Humanos , Técnicas In Vitro , ARN Mensajero/genética , ARN Neoplásico/genética , Mapeo Restrictivo , Translocación Genética , Células Tumorales Cultivadas
14.
Proc Natl Acad Sci U S A ; 88(23): 10735-9, 1991 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-1720549

RESUMEN

Recurring chromosomal translocations involving chromosome 11, band q23, have been observed in acute lymphoid leukemias and especially in acute myeloid leukemias. We recently showed that breakpoints in four 11q23 translocations, t(4;11)(q21;q23), t(6;11)(q27;q23), t(9;11)(p22;q23), and t(11;19)(q23;p13.3), were contained within a yeast artificial chromosome clone bearing the CD3D and CD3G gene loci. We have identified within the CD3 yeast artificial chromosome a transcription unit that spans the breakpoint junctions of the 4;11, 9;11, and 11;19 translocations, and we describe two other, related transcripts that are upregulated in the RS4;11 cell line. We have named this gene MLL (myeloid/lymphoid, or mixed-lineage, leukemia.


Asunto(s)
Bandeo Cromosómico , Cromosomas Humanos Par 11 , Genes , Leucemia/genética , Translocación Genética , Adulto , Northern Blotting , Southern Blotting , Línea Celular , Preescolar , Clonación Molecular , ADN de Neoplasias/genética , ADN de Neoplasias/aislamiento & purificación , Femenino , Expresión Génica/efectos de los fármacos , Humanos , Cariotipificación , Masculino , Persona de Mediana Edad , Poli A/genética , Poli A/aislamiento & purificación , ARN/genética , ARN/aislamiento & purificación , ARN Mensajero , ARN Neoplásico/genética , ARN Neoplásico/aislamiento & purificación , Mapeo Restrictivo , Acetato de Tetradecanoilforbol/farmacología
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