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1.
Environ Pollut ; 333: 122077, 2023 Sep 15.
Artículo en Inglés | MEDLINE | ID: mdl-37343912

RESUMEN

Vehicle exhaust and oil fuel evaporation emit volatile organic compounds (VOCs). The differences in VOC compositions and their effects determined using different methods have not been addressed sufficiently. In this study, VOC samples are obtained from single gasoline and diesel vehicle exhausts using a portable emission measurement system, from a tunnel in Yichang City, and from gasoline and diesel evaporation at gas stations. A total of 107 VOCs are analysed. The calculated VOC source profiles (based on VOC source profiles of single-vehicle type and vehicle fleet composition in the tunnel) and the tested source profiles (from a tunnel test) are compared. The results show that gasoline burning can reduce alkenes from a mass fraction of 53.1% (for evaporation) to 3.6% (for burning), as well as increase the mass fraction of alkenes from 1.3% (for diesel evaporation) to 34.0% (for diesel burning). The calculated VOC source profiles differed from the tested VOC source profiles, with a coefficient of divergence of 0.6. Ethane, ethylene, n-undecane, and n-dodecane are used to distinguish VOCs in gasoline and diesel exhausts. Cis-2-butene, 2-methylpentane, m/p-xylene, o-xylene, and n-decane can be used to separate gasoline from diesel. The xylene/ethylbenzene ratios accurately reveal the photochemical age. Gasoline burning increases health risks associated with VOCs compared with gasoline evaporation. Furthermore, it modifies the main contributor to ozone formation potential. This study is expected to facilitate refined VOC source apportionment and studies pertaining to speciated emission inventories.


Asunto(s)
Contaminantes Atmosféricos , Ozono , Compuestos Orgánicos Volátiles , Emisiones de Vehículos/análisis , Compuestos Orgánicos Volátiles/análisis , Contaminantes Atmosféricos/análisis , Gasolina/análisis , Ozono/análisis , Alquenos/análisis , Monitoreo del Ambiente , China
2.
Environ Int ; 158: 107001, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34991261

RESUMEN

Residential coal combustion (RCC) emission exhibited obvious daily variation, while no real-time estimation of air pollutants from RCC has been reported, as the shortages of corresponding activity dataset and emission factors with high time resolution. A real-time monitoring platform for RCC emission was established. Hourly emission factors of 18 typed of TEs from eleven kinds of chunk coals and nine kinds of honeycomb coals burning in China were obtained. The monthly and hourly coal consumption amounts were calculated with reference and our field survey. Then the hourly TEs emission inventories from RCC were established in China. GEOS-Chem and Risk Quotients Models were utilized to map the spatialized health risks of hazardous elements, including the gridded hazard index and carcinogenic risk. The result indicated that the EFs of TEs would be underestimated if the tests only consider flaming conditions. Cu, K, Ca, Zn, and Co were the top five elements from RCC, with corresponding emission amounts as 1397.7, 1054.0, 676.0, 623.5 and 420 tons in 2017, respectively. K, Ti, Fe, Sn, and Sb showed hourly peak values under flaming dominated periods, accounting for 48.2%, 45.9%, 31.8%, 42.8%, and 33.8% of their daily emissions. Other elements (e.g., V, Co, As, Hg and Pb) exhibited higher emissions under smoldering dominated period in nighttime, accounting for 22.2%, 32.9%, 27.6%, 34.7%, and 28.4% of their daily emissions. TEs emission from RCC closely follows the habits of human daily cooking and heating activity. The national HI were lower than the acceptable level (HI ≤ 1) except Sichuan Province (up to 1.2). Higher carcinogenic risks (≥1 × 10-6) occurred in parts of Sichuan, Shanxi, Hunan and Hubei, which were up to 2.0 × 10-5. The high-resolution TEs emission inventories could be useful for future modeling works on the formation and evolution of air pollution and are helpful for human exposure assessment.


Asunto(s)
Contaminantes Atmosféricos , Oligoelementos , Contaminantes Atmosféricos/análisis , China , Carbón Mineral/análisis , Monitoreo del Ambiente , Humanos
3.
Sci Total Environ ; 814: 151950, 2022 Mar 25.
Artículo en Inglés | MEDLINE | ID: mdl-34838559

RESUMEN

Residential coal combustion (RCC) emission demonstrates obvious daily variation, while no real-time estimation of air pollutants from RCC has been reported, as the limitation of hourly activity data and emission factors. With a dilution sampling system, a high-precision electronic balance, and an Aethalometer Model AE33, a real-time monitoring platform for RCC emission was established. Hourly emission factors (EFs) of BC and absorption emission factors (AEFs) of BrC from eleven kinds of chunk coals and nine kinds of honeycomb coals burning in China were obtained. The monthly and hourly coal consumption amounts were calculated with the activity data from literature reviews and a field survey. The first hourly BC and absorption cross section of BrC emission inventories from RCC were established in China. The historical emission trends (2003-2017) indicated that the policy has rapidly controlled the emission of BC and ACSBrC from RCC in urban area (26.7% and 31.8% decreased, respectively in 2013). While in rural areas, their emission continually increased by 1.2% ~ 5.3% until more strict law enacted in 2017. Emissions of BC and ACSBrC in winter seasons were 60.1 Gg and 1064.1 Gm2, which accounted for 54.3% and 55.1% of the total BC and ACSBrC emissions correspondingly. The peak values of hourly emission of BC and ACSBrC (in 370 nm) normally appeared at 19:00-23:00, accounting for 43.0% and 41.5% of their total daily emission. The low emission periods were at cooking times including 7:00, 12:00, and 17:00 of a day and the whole emission of BC and ACSBrC for the three periods accounted for 1.8% and 2.3% of their daily emission. This high-resolution BC and ACSBrC emission inventories can be useful for future modeling works on the formation and evolution of a haze event, the smoke aging and transportation, as well as corresponding climate and human health effects.


Asunto(s)
Contaminantes Atmosféricos , Carbón Mineral , Contaminantes Atmosféricos/análisis , Carbono/análisis , China , Carbón Mineral/análisis , Monitoreo del Ambiente , Humanos , Material Particulado/análisis , Hollín/análisis
4.
Sci Total Environ ; 751: 141741, 2021 Jan 10.
Artículo en Inglés | MEDLINE | ID: mdl-32889467

RESUMEN

Source profiles of volatile organic compounds (VOCs) emitted from the evaporation of various fuels, industrial raw materials, processes and products are still limited in China. The impact of ambient temperature on the VOC released from these fugitive emission sources has also been rarely reported. In order to establish VOC source profiles for thirteen volatile emission sources, a sampling campaign was conducted in Central China, and five types of sources were investigated both in winter and summer. The dominant VOC groups varied in different sources, and they were alkanes (78.6%), alkenes (53.1%), aromatics (55.1%), halohydrocarbons (80.7%) and oxygenated VOCs (OVOCs) (76.0%), respectively. Ambient temperature showed different impacts on VOC source profiles and specific species ratios. The mass percentages of halohydrocarbons emitted from color printing and waste transfer station in summer were 42 times and 20 times higher than those in winter, respectively. The mass percentages of OVOCs emitted from car painting, waste transfer station and laundry emission sources were much higher in summer (7.9-27.8%) than those in winter (0.8-2.6%). On the contrary, alkanes from color printing, car painting and waste transfer stations were about 11, 4 and 5 times higher in winter than those in summer, respectively. The coefficient of divergence values for the source profiles obtained in winter and summer ranged in 0.3-0.7, indicating obvious differences of source profiles. Benzene/toluene ratio varied in 0.00-0.76, and it was in the range of 0.02-0.50 in winter and 0.04-0.52 in summer for the same sources, respectively. Hexanal, isobutene, m,p-xylene, toluene, 2-methylacrolein, styrene, 1-hexane and cis-2-butene dominated the ozone formation potentials (OFP). The OFP summer/winter differences were 5-320 times by MIR method and 1-79 times by Propy-Equiv method, respectively. This study firstly gave direct evidence that ambient temperature modified the mass percentages of VOC species obviously. It is important for improving VOC source apportionment and chemical reactivity simulation.

5.
Front Immunol ; 11: 562138, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33133072

RESUMEN

Objective: Anti-DFS70 antibodies correlating with the nuclear dense fine speckled (DFS) pattern in the HEp-2 indirect immunofluorescence assay (IFA) are less common in patients with systemic autoimmune rheumatic disease (SARD) than in healthy subjects and their clinical associations remain elusive. We hosted a multi-center HEp-2 IFA training program to improve the ability of clinical laboratories to recognize the DFS pattern and to investigate the prevalence and relevance of anti-DFS70 antibodies. Methods: DFS pattern sera identified by HEp-2 IFA in 29 centers in China were redirected to a central laboratory for anti-DFS70 testing by line immunoblot assay (LIA), enzyme-linked immunosorbent assay (ELISA), and IFA with HEp-2 ELITE/DFS70-KO substrate. Anti-extractable nuclear antigen antibodies were measured by LIA and the clinical relevance was examined in adult and pediatric patients. Results: HEp-2 IFA positive rate and DFS pattern in positive sera were 36.2% (34,417/95,131) and 1.7% (582/34,417) in the patient cohort, and 10.0% (423/4,234) and 7.8% (33/423) in a healthy population, respectively. Anti-DFS70 prevalence among sera presenting the DFS pattern was 96.0, 93.7, and 49.6% by ELISA, LIA, and HEp-2 ELITE, respectively. 15.5% (52/336) of adult and 50.0% (20/40) of pediatric anti-DFS70 positive patients were diagnosed with SARD. Diseases most common in anti-DFS70 positive patients were spontaneous abortion (28.0%) in adults and juvenile idiopathic arthritis (22.5%) in pediatric patients. Conclusion: Accurate DFS pattern identification increased the detection rate of anti-DFS70 antibodies by ELISA and LIA. Anti-DFS70 antibodies are remarkably high in cases of spontaneous abortion and in pediatric SARD patients, but not prevalent in adult SARD patients.


Asunto(s)
Aborto Espontáneo/epidemiología , Aborto Espontáneo/inmunología , Proteínas Adaptadoras Transductoras de Señales/inmunología , Artritis Juvenil/epidemiología , Artritis Juvenil/inmunología , Autoanticuerpos/sangre , Factores de Transcripción/inmunología , Aborto Espontáneo/sangre , Adulto , Artritis Juvenil/sangre , Autoanticuerpos/inmunología , Niño , China/epidemiología , Estudios de Cohortes , Ensayo de Inmunoadsorción Enzimática , Femenino , Técnica del Anticuerpo Fluorescente Indirecta , Humanos , Masculino , Fenotipo , Embarazo , Prevalencia
6.
Huan Jing Ke Xue ; 41(3): 1107-1115, 2020 Mar 08.
Artículo en Chino | MEDLINE | ID: mdl-32608611

RESUMEN

Wood and economic crops are still widely used in rural areas of China. Although their combustion is an important source of volatile organic compounds (VOCs), study on their emission characteristics is relatively weak. In this study, three kinds of wood (poplar, cedarwood, and citrus branches) and six economic crop straws (soybean stalk, sesame stalk, corn cob, cotton stalk, peanut stalk, and corn stalk) were selected and their burning was simulated in the laboratory. A dilution tunnel system was used to dilute the smoke, and then Tedlar bags were used to collect the smoke. The compositions of 102 VOCs were analyzed by Agilent 7820A/5977E gas chromatography/mass spectrometry. The ozone formation potential (OFP) of VOCs for different types of biomass burning was analyzed. The results indicated that there are differences in the VOC compositions of different types of biomass burning emissions. Ethane (11.1%), trans-2-pentene (15.4%), ethylene (8.3%), and dichloromethane (11.9%) are the main VOCs emitted from poplar and cedarwood burning. Toluene (49.8%) is the most abundant species of VOC emitted from burning of citrus branches. Ethylene (11.8%-17.5%) and acetone (9.2%-14.7%) are the main VOCs components of straw burning. Corn stalks, peanut stalks, and citrus branches have similar VOC source profiles, with the coefficient of divergence less than 0.1. The benzene/toluene ratio for biomass burning emissions obtained in this study and in the literature is in the range of 0.030-6.48. It is arguable that a value higher than 1 indicated the impact of biomass burning. The contributions of alkenens, oxygenated VOCs, and aromatic hydrocarbons to the OFP of biomass burning were 30.6%-80.3%, 6.5%-21.0%, and 3.8%-56.5%, respectively. The components contributing more than 10.0% to the OFP are ethylene, propylene, trans-2-pentene, cis-2-pentene, toluene, and propionaldehyde.

7.
Environ Sci Pollut Res Int ; 27(14): 16554-16573, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32128731

RESUMEN

Sub-type source profiles for atmospheric fine particle (PM2.5) were still scare in China, which limited the accurate source identification of it. Fugitive dust (including road dust, soil dust, resuspended dust, and construction dust, etc.) was one type of the most important contributors to PM2.5 and its associated toxic metals held potential threaten to human health. The chemical compositions, sources, and health risks of sub-type fugitive dust deserved an investigation for further accurate control of particles and alleviating human health risks. A total of sixty-five fugitive dust samples were collected in Suzhou, a fast-developing city in southern China, including eleven sub-types of road dust (overpass, main street, collector street, and ordinary street), soil dust (farmland and tree lawn), resuspended dust (site types were corresponding to those of road dust), and construction dust (large construction sites). Chemical analysis of water-soluble ions, elements, and carbonaceous components was carried out to establish the sub-type source profiles of PM2.5 for fugitive dust. Results showed that crustal elements were the most abundant components of fugitive dust, and soil dust was less polluted by anthropogenic activities. High contents of OC and low contents of EC were found in all the eleven types of dust. Equivalent ratios of anions and cations indicated that the fugitive dust was obviously alkaline. The contents of OC and EC in the four types of road dust were higher than those in other types of dust, while there existed differences among the sub-types of road dust. The NO3-/SO42- ratios (0.03-0.09) implied that coal-burning and motor vehicle emission co-existed in Suzhou. Coefficient divergence (CD) values of eleven sub-type source profiles showed that there were certain differences among them, which suggested the possibility of sub-type source identification. Cluster analysis indicated the heavy metals in fugitive dust were mainly from crustal materials, metallurgical manufacturing, vehicle emissions, and industrial activities. The enrichment degree of heavy metals for the four types of road dust was also inconsistent. Heavy metals in road dust and soil dust posed a non-carcinogenic risk to children through direct ingestion, and the non-carcinogenic risk of direct intake of heavy metals was much higher than that of respiratory and skin contact. It was found that the accumulative health risks of heavy metals were higher in densely populated areas, traffic intensive areas, and industrial areas through the spatial analysis. This study firstly discussed the chemical compositions of PM2.5 for eleven sub-types of fugitive dust in a Chinese city and assessed the accumulative health risks of heavy metals, which could be a demonstration for further related researches.


Asunto(s)
Contaminantes Atmosféricos/análisis , Metales Pesados/análisis , Niño , China , Ciudades , Polvo/análisis , Monitoreo del Ambiente , Humanos , Medición de Riesgo
8.
Sci Total Environ ; 703: 135505, 2020 Feb 10.
Artículo en Inglés | MEDLINE | ID: mdl-31759719

RESUMEN

Petrochemical industry (PI) is an important emission sector of anthropogenic volatile organic compounds (VOCs). The health impacts of VOCs from PI have caused a wide attention by both scientists and publics. In this study, compositions, sources and health risks of VOCs at a typical petrochemical industrial park along the middle reach of Yangtze River were studied. The total VOC concentrations were in the range of 5.59 to 541 ppbv with a mean value of 54.8 ppbv. Alkanes (41.4 ±â€¯15.7%) were the predominant group, followed by alkenes (19.9 ±â€¯18.3%), OVOCs (14.7 ±â€¯9.26%), halo hydrocarbon (11.2 ±â€¯6.42%), aromatics (8.17 ±â€¯5.08%), and acetylene (4.54 ±â€¯2.80%). Compound-specific health risk results showed that acrolein and 1,3-butadiene had the highest non-carcinogenic risk (expressed by hazard ratio, HR: 22.8) and carcinogenic risk (expressed by lifetime cancer risk, LCR: 6.7 × 10-3), respectively. Positive matrix factorization (PMF) model identified four VOC sources including fuel evaporation, industrial sources, ethylene industry and regional background with the average contributions of 35.6%, 12.0%, 26.5% and 25.9%, respectively. The receptor-originated approach combining the PMF model and conventional methods (HR and LCR) was used to assess the source-specific health risks. The non-cancer risks of four VOC sources were above safe level with regional background contributing most (38.3% or 4.91) to HR. The cancer risks of the four sources were below the tolerable level (<10-4) and regional background also contributed most, with relative contribution of 58.4% (or 10-4.22) to LCR. Our results are conductive to the formulation of countermeasures to reduce human exposure to ambient VOCs at petrochemical industrial parks in China.


Asunto(s)
Contaminantes Atmosféricos/análisis , Monitoreo del Ambiente , Compuestos Orgánicos Volátiles/análisis , China , Industrias
9.
Sci Total Environ ; 694: 133802, 2019 Dec 01.
Artículo en Inglés | MEDLINE | ID: mdl-31756794

RESUMEN

Airborne fungi are a primary component of bioaerosols and proved to impact human health and climatic change. Deoxyribonucleic acid (DNA) is the essential component of most living organisms with relatively stable physicochemical properties. Little is known about day-night and pollution-episode differences of DNA mass ratio and fungal community in fine particles (PM2.5) during serious winter haze events in China. Here we collected twenty-nine PM2.5 samples every day and night during an entire winter haze evolution process in a megacity of Central China, Wuhan. DNA extraction and high-throughput sequencing methods were adopted to analyze fungal community. Results showed that mass ratio of DNA in PM2.5 (RD/P %) changed with pollution process and showed significant negative correlations with PM2.5 concentration (r = -0.72, P < 0.05) and temperature (r = -0.74, P < 0.05). RD/P became lower (4.40 × 10-4%) after haze episodes than before (7.16 × 10-4%). RD/P of night-samples (1.98 × 10-4-4.97 × 10-4%) were all lower than those for day-samples (3.05 × 10-4-9.99 × 10-4%) for the same period. The fungal species richness became much lower (76 operational taxonomic units (OTUs)) after haze episodes than before (198 OTUs). The species richness of night-samples (119-537 OTUs) were all higher than those of day-samples (71-198 OTUs) for the same period. The OTUs specially owned by night-samples were also more than those by day-samples. Fungal community diversity showed random variations. The fungal community composition of each sample was classified from phylum to genus level. Pathogenic fungi accounted for 8.60% of the entire fungal community. The significantly enriched fungal taxa in the night-sample group (29 taxa) were also much more than that in the day-sample group (9 taxa), which could explain the higher species richness of airborne fungi community in the night during the haze evolution episodes. These findings may serve as an important reference or inspiration to other aerosol studies focusing on human health and behavior of aerosols in the atmosphere.


Asunto(s)
Aerosoles/análisis , Microbiología del Aire , Monitoreo del Ambiente , Material Particulado/análisis , Atmósfera , Bacterias , China , ADN , Hongos , Estaciones del Año
10.
Environ Sci Pollut Res Int ; 26(31): 31793-31803, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31485941

RESUMEN

Residential coal combustion is one of the main sources of ambient polycyclic aromatic hydrocarbons (PAHs). Updating its emission estimation is limited by the shortages of emission factors, especially for them in different particle sizes and from different combustion conditions. PAH emission factors (EFs) for nine size-segregated particle segments emitted from smoldering and flaming combustion of residential coals (four kinds of raw coals (RCs) and three kinds of honeycomb coal briquettes (HCBs)) were obtained in China, using a dilution sampling system. EFs of PAHs for the flaming and smoldering of HCB ranged from 1.32 to 2.04 mg kg-1 and 0.35 to 5.36 mg kg-1, respectively. The EFs of PAHs for RC flaming combustion varied from 0.50 to 218.96 mg kg-1. About 53.5-96.4% and 47.4-90.9% of PAHs concentrated in PM2.1 and PM1.1, respectively. Different fuel types and combustion conditions strongly affected the PAH EFs. The PAH EF for the RC was 0.3 times that for HCB in Guizhou, which implied that PAH EFs for RC combustion were not always higher than those from HCB burning. For different combustion conditions, the PAH EFs from flaming were more than 2.5 times higher than those from smoldering for HCB except in the Anhui region. Results indicated that current PAH EFs may not be universal, which may bias the establishment of control policies for toxic pollutants emitted from domestic coal burning. On average, 73.2 ± 15.5% of total PAH potential toxicity risks were concentrated in submicron particles. More size-segregated PAH EFs for residential coal combustion should be investigated considering combustion conditions with a uniform sampling method in China.


Asunto(s)
Contaminantes Atmosféricos/análisis , Carbón Mineral/análisis , Hidrocarburos Policíclicos Aromáticos/análisis , China , Tamaño de la Partícula
11.
Gen Comp Endocrinol ; 279: 174-183, 2019 08 01.
Artículo en Inglés | MEDLINE | ID: mdl-30914266

RESUMEN

OBJECTIVE: Cisplatin is an important antineoplastic drug and has side effects such as nausea, vomiting, and dyspepsia. The detailed mechanisms for its side effects are yet not well be illustrated. Our purpose was to investigate the discharges of gastric distention (GD) sensitive neurons regulated by ghrelin and electrical stimulation of the lateral hypothalamus area (LHA) via the dorsal vagal complex (DVC) in cisplatin-treated rats. MATERIALS AND METHODS: Extracellular discharge recording was performed to observe the effects of ghrelin and electrical stimulation of the LHA on discharges of GD neurons in the DVC. RESULTS: GD neurons were recorded in DVC in saline-treated and cisplatin-treated rats and identified as GD-excitatory (GD-E) neurons, which are excited by gastric distension, and GD-inhibitory (GE-I) neurons, which are inhibited by gastric distension. Microinjection of ghrelin into the DVC increased the firing frequency of most GD neurons, while the ratios of excited GD-E and GD-I neurons in cisplatin-treated rats were significantly lower than those in saline-treated rats. The excitatory effect of ghrelin was eliminated completely by DVC pretreatment with ghrelin receptor antagonist [D-Lys-3]-GHRP-6. After electrical stimulation of the LHA, the firing frequency of these neurons significantly increased. This excitatory effect was weaker in cisplatin-treated rats than in saline-treated rats and could be partly blocked by DVC pretreatment with [D-Lys-3]-GHRP-6. CONCLUSION: GD neurons in the DVC could be excited by microinjecting ghrelin into the DVC and electrical stimulation of the LHA, respectively. The excitatory effect was attenuated by cisplatin injected intraperitoneally.


Asunto(s)
Cisplatino/farmacología , Ghrelina/farmacología , Área Hipotalámica Lateral/fisiología , Neuronas/fisiología , Estómago/inervación , Nervio Vago/fisiología , Potenciales de Acción/efectos de los fármacos , Animales , Estimulación Eléctrica , Ghrelina/metabolismo , Área Hipotalámica Lateral/efectos de los fármacos , Masculino , Neuronas/efectos de los fármacos , Ratas Wistar , Receptores de Ghrelina/metabolismo , Nervio Vago/efectos de los fármacos
13.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 28(1): 10-3, 2011 Feb.
Artículo en Chino | MEDLINE | ID: mdl-21287501

RESUMEN

OBJECTIVE: To investigate the gene mutation and the molecular pathogenesis of an inherited coagulation factor VII (F VII) deficiency pedigree with consanguineous marriage. METHODS: The diagnosis was validated by coagulant parameter assay on the prothrombin time (PT), activated partial thromboplastin time, fibrinogen and coagulation factor activity. F VII gene mutations were analyzed in the proband and other family members by direct DNA sequencing of the PCR products of all exons, exon-intron boundaries and 5'and 3' untranslated sequences. The mutations were confirmed by reverse sequencing. RESULTS: The values of PT and F VII activity in the proband were significantly abnormal, they were 30.9 s and 3% respectively. The PT of her daughter, father and mother was slightly extended to 21.2 s, 16.3 s and 16.1 s respectively, and the F VII activity was reduced to 22%, 25% and 35% respectively. The coagulant parameters of her younger brother were within normal range. Homozygous T-->G transition at position 11482 in exon 8 was identified in the proband resulting in His348Gln, and heterozygosity for His348Gln was confirmed in her daughter and her parents, and the normal wild-type was observed in her younger brother. CONCLUSION: Homozygous missense mutation of His348Gln was found in a pedigree of hereditary F VII deficiency. The mutation was inherited from her heterozygote parents.


Asunto(s)
Deficiencia del Factor VII/genética , Factor VII/genética , Mutación Missense , Linaje , Adolescente , Adulto , Anciano , Femenino , Homocigoto , Humanos , Recién Nacido , Masculino , Persona de Mediana Edad
14.
Zhonghua Xue Ye Xue Za Zhi ; 32(12): 854-7, 2011 Dec.
Artículo en Chino | MEDLINE | ID: mdl-22339961

RESUMEN

OBJECTIVE: To perform gene analysis and family survey of a patient with combined inherited FVII and FX deficiency, and to identify the gene mutation of this patient. METHODS: The phenotype diagnosis was validated by coagulant parameter assay on prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII and FX activity (FVII:C, FX:C) and FVII and FX antigen (FVII:Ag, FX:Ag). FVII and FX gene mutations were analyzed in the proband and other family members by DNA direct sequencing of all exons, exon-intron boundaries and 5', 3' untranslated sequences. One hundred and six health examination participants were selected as control. RESULTS: The values of PT and APTT of the proband showed significantly prolonged, which were 84.5s and 63.4s, respectively. The levels of FVII:C, FVII:Ag, FX:C and FX:Ag were 6%, 7%, 4% and 30%, respectively. The PT of his father, mother and sister was prolonged slightly while both APTT and FVII:Ag were in the normal range. Two homozygous mutations, g.11267C→T in exon 8 of FVII gene resulting in the substitution of Arg277Cys and g.28139G→T in exon 8 of FX gene leading to the substitution of Val384Phe, were identified in the proband. The proband's parents and sister were heterozygous for Arg277Cys and Val384Phe mutations. CONCLUSION: Homozygous mutation Arg277Cys in FVII gene and Val384Phe in FX gene were the molecular mechanism causing combined inherited FVII and FX deficiency. The Val384Phe substitution was a novel mutation, which may affect the synthesis or secretion of FX protein.


Asunto(s)
Deficiencia del Factor VII/genética , Deficiencia del Factor X/genética , Adolescente , Adulto , Secuencia de Bases , Análisis Mutacional de ADN , Factor VII/genética , Deficiencia del Factor VII/complicaciones , Deficiencia del Factor X/complicaciones , Femenino , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación , Linaje , Adulto Joven
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