RESUMEN
Qa-SNARE gene SYP132 (isoform α) was previously reported to affect arbuscular mycorrhizal (AM) symbiosis in the legume species Medicago truncatula. In non-legumes especially monocots, it remains unknown whether certain SNARE genes are also involved in AM symbiosis. In this work, we studied a rice orthologous gene OsSYP132, which showed induced expression in mycorrhizal roots and two paralogous genes OsSYP131a and OsSYP131b, which were not induced by the AM fungus Rhizophagus irregularis. After employing CRISPR/Cas9 technique to generate their mutants, the Ossyp131a homozygous mutant T0 plants exhibited a dwarf phenotype and produced no fertile seeds, indicating a required role of this gene in seed fertility. Unlike the case in legume, the Ossyp132 mutants exhibited normal mycorrhizal phenotype, so did the Ossyp131b mutants. In the Ossyp131b Ossyp132 double mutants, however, the colonization rate and arbuscule abundance level decreased markedly, indicating an impaired fungal proliferation ability in rice roots. Such a defect was further confirmed by the reduced expression levels of AM marker genes. Our results in rice therefore demonstrated that while SYP13II members showed evolutionary and induction patterns specific to symbiosis, AM symbiosis is in fact controlled by the combined action of both SYP13I and SYP13II clades, revealing a functional redundancy among SYNTAXIN genes in mutualism.
RESUMEN
Several angiosperm GRETCHEN HAGEN 3 (GH3) genes, including tomato SlGH3.4 and rice OsGH3.2 are induced during arbuscular mycorrhizal (AM) symbiosis, but their functions remain largely unclear. Recently, tomato SlGH3.4 was suggested to negatively regulate arbuscule incidence via decreasing auxin levels in colonized cells. In this study, by acquiring rice OsGH3.2pro:ß-glucuronidase (GUS) transgenic plants and generating Osgh3.2 mutants via CRISPR/Cas9 technique, the roles of OsGH3.2 in modulating rice root morphology and affecting AM symbiosis were investigated through time course experiments. Unlike SlGH3.4, OsGH3.2 showed asymbiotic expression in rice young lateral roots, and its mutation resulted in a "shallow" root architecture. Such root morphological change was also observed under symbiotic condition and it likely promoted AM fungal colonization, as the mutants exhibited higher colonization levels and arbuscule incidence than wild-type at early stages. Similar to SlGH3.4, OsGH3.2 showed symbiotic expression in cortical cells that have formed mature arbuscules. At late stages of symbiosis, Osgh3.2 mutants showed elongated cortical cells and larger arbuscules than wild-type, indicating elevated auxin level in the colonized cells. Together, these results revealed both asymbiotic and symbiotic roles of OsGH3.2 in modulating rice root architecture and controlling auxin levels in arbusculated cells, which further affected colonization rate and arbuscule phenotype.
RESUMEN
Arbuscular mycorrhizal (AM) symbiosis relies on the formation of arbuscules for efficient nutrient exchange between plants and AM fungi. In this study, we identified a novel kinase gene in rice named OsADK1 (Arbuscule Development Kinase 1) that is required for arbuscule development. By obtaining OsADK1pro::GUS transgenic rice plants and also generating Osadk1 mutants via CRISPR/Cas9 technique, OsADK1 was revealed to be specifically induced in the arbusculated cortical cells and mutations in OsADK1 resulted in an extremely low colonisation rate (c. 3%) of rice roots by AM fungus Rhizophagus irregularis. In the mutant roots, the very few observed arbuscules nearly all arrested at an early 'trunk-forming' phase without forming any branches. Increasing the inoculum strength of AM fungus or cocultivation with a wild-type nurse plant did not result in the rescue of the arbuscule phenotype. Transcriptome sequencing of both nursed and un-nursed Osadk1 mutants then revealed that the mutation of OsADK1 could greatly affect the AM symbiotic programme, including many key transcription factors such as RAM1 and WRI5. OsADK1 therefore represents a new rice kinase that is required for arbuscule branching. Its identification opens a new window to explore the elaborate signal transduction pathway that determines arbuscule development during plant-fungus symbiosis.
Asunto(s)
Micorrizas , Oryza , Regulación de la Expresión Génica de las Plantas , Micorrizas/fisiología , Oryza/metabolismo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Raíces de Plantas/metabolismo , Simbiosis/fisiologíaRESUMEN
Arbuscular mycorrhiza (AM) is a mutualistic symbiosis formed between most land plants and Glomeromycotina fungi. During symbiosis, plants provide organic carbon to fungi in exchange for mineral nutrients. Previous legume studies showed that the required for arbuscular mycorrhization2 (RAM2) gene is necessary for transferring lipids from plants to AM fungi (AMF) and is also likely to play a "signaling" role at the root surface. To further explore RAM2 functions in other plant lineages, in this study, two rice (Oryza sativa) genes, OsRAM2 and OsRAM2L, were identified as orthologs of legume RAM2. Examining their expression patterns during symbiosis revealed that only OsRAM2 was strongly upregulated upon AMF inoculation. CRISPR/Cas9 mutagenesis was then performed to obtain three Osram2 mutant lines (-1, -2, and -3). After inoculation by AMF Rhizophagus irregularis or Funneliformis mosseae, all of the mutant lines showed extremely low colonization rates and the rarely observed arbuscules were all defective, thus supporting a conserved "nutritional" role of RAM2 between monocot and dicot lineages. As for the signaling role, although the hyphopodia numbers formed by both AMF on Osram2 mutants were indeed reduced, their morphology showed no abnormality, with fungal hyphae invading roots successfully. Promoter activities further indicated that OsRAM2 was not expressed in epidermal cells below hyphopodia or outer cortical cells enclosing fungal hyphae but instead expressed exclusively in cortical cells containing arbuscules. Therefore, this suggested an indirect role of RAM2 rather than a direct involvement in determining the symbiosis signals at the root surface.[Formula: see text] The author(s) have dedicated the work to the public domain under the Creative Commons CC0 "No Rights Reserved" license by waiving all of his or her rights to the work worldwide under copyright law, including all related and neighboring rights, to the extent allowed by law, 2022.
Asunto(s)
Glomeromycota , Oryza , Lípidos , Oryza/microbiología , Raíces de Plantas/microbiología , Simbiosis/genéticaRESUMEN
AIM: To explore the global trends and focus of glaucoma research from 2009 to 2018. METHODS: Searching for glaucoma-related articles published in Science Citation Index Expanded (SCIE) database during 2009-2018, and describing the distribution of the published year, countries, authors, institutions, funding agencies, journals, impact factor, citation and hot research topic of articles by using bibliometric methods. Meanwhile, we compared some of these indicators over two five-year periods, from 2009 to 2013 and from 2014 to 2018. RESULTS: A total of 19 609 glaucoma-related articles were retrieved and the global SCIE articles have increased yearly from 2009 to 2018. The USA was the pioneer which has made great contributions. China kept the second place and the number of publications has increased rapidly between 2014 and 2018. The author with the highest number of publications was Weinreb, RN. Co-occurrence maps were built amongst the top 50 authors or the top 50 institutions with the most articles, which visualize the closer collaboration of international authors or institutions. The journal Investigative Ophthalmology & Visual Science has published the most papers. Glaucoma literature with an impact factor of 3-5 points accounted for the largest proportion (28.96%). The most frequently cited paper had 798 citations. The top three hot areas on glaucoma were intraocular pressure, optical coherence tomography (OCT) and retinal ganglion cells. And trabecular meshwork, primary angle-closure glaucoma and Spectral-domain OCT have become new hot research topics in recent five years during 2014-2018. CONCLUSION: Bibliometric analysis is an effective method to describe the global literature on glaucoma. In a 10-year literature survey from 2009 to 2018, global glaucoma research has developed in a balanced manner, and the cooperation between various institutions and teams has become closer. Glaucoma-related pathogenesis research, imaging examinations of OCT and surgery therapy have attracted most attention.
RESUMEN
OBJECTIVE: We present two prenatal cases of first-trimester cystic hygroma who are later found to suffer from rare genetic syndromes. CASE REPORT: Both of the two pregnant women were showed to have fetal cystic hygroma on ultrasound at the first trimester. Fetal microarray result was normal. Follow-up sonographic examinations showed no structural anomalies. The two pregnancies continued uncomplicatedly to term. However, the two infants developed early neurodevelopmental syndrome within two years of age. Exome sequencing confirmed that one child had Mental retardation, autosomal dominant 23 (MRD23) with a c.646delC (p.Q216Sfs∗35) variant in SETD5 gene, and the other child had Smith-Magenis syndrome with a c.3103dupC (Q1035Pfs∗31) variant in RAI1 gene. CONCLUSION: Clinicians have to be vigilant when counseling the patient whose fetus has a first-trimester cystic hygroma even with a normal array result and normal sonographic scans. Although they are rare, monogenetic syndromes are possible outcomes.
Asunto(s)
Hidropesía Fetal/genética , Linfangioma Quístico/genética , Trastornos del Neurodesarrollo/genética , Diagnóstico Prenatal/métodos , Síndrome de Smith-Magenis/genética , Adulto , Femenino , Humanos , Hidropesía Fetal/diagnóstico , Lactante , Recién Nacido , Mutación con Pérdida de Función/genética , Linfangioma Quístico/diagnóstico , Linfangioma Quístico/embriología , Masculino , Ilustración Médica , Metiltransferasas/genética , Embarazo , Primer Trimestre del Embarazo , Transactivadores/genéticaRESUMEN
KEY MESSAGE: In the soybean cultivar Raiden, both a SMV-resistance gene and a BCMV-resistance gene were fine-mapped to a common region within the Rsv1 complex locus on chromosome 13, in which two CC-NBS-LRR resistance genes (Glyma.13g184800 and Glyma.13g184900) exhibited significant divergence between resistant and susceptible cultivars and were subjected to positive selection. Both Soybean mosaic virus (SMV) and Bean common mosaic virus (BCMV) can induce soybean mosaic diseases. To date, few studies have explored soybean resistance against these two viruses simultaneously. In this work, Raiden, a cultivar resistant to both SMV and BCMV, was crossed with a susceptible cultivar, Williams 82, to fine-map the resistance genes. After inoculating ~ 200 F2 individuals with either SMV (SC6-N) or BCMV (HZZB011), a segregation ratio of 3 resistant:1 susceptible was observed, indicating that for either virus, a single dominant gene confers resistance. Bulk segregation analysis (BSA) revealed that the BCMV-resistance gene is also linked to the SMV-resistance Rsv1 complex locus. Genotyping the F2 individuals with 12 simple sequence repeat (SSR) markers across the Rsv1 complex locus then preliminarily mapped the SMV-resistance gene, Rsv1-r, between SSR markers BARCSOYSSR_13_1075 and BARCSOYSSR_13_1161 and the BCMV-resistance gene between BARCSOYSSR_13_1084 and BARCSOYSSR_13_1115. Furthermore, a population of 1009 F2 individuals was screened with markers BARCSOYSSR_13_1075 and BARCSOYSSR_13_1161, and 32 recombinant F2 individuals were identified. By determining the genotypes of these F2 individuals on multiple internal SSR and single nucleotide polymorphism (SNP) markers and assaying the phenotypes of selected recombinant F2:3 lines, both the SMV- and BCMV-resistance genes were fine-mapped to a common region ( ~ 154.5 kb) between two SNP markers: SNP-38 and SNP-50. Within the mapped region, two CC-NBS-LRR genes exhibited significant divergence between Raiden and Williams 82, and their evolution has been affected by positive selection.
Asunto(s)
Resistencia a la Enfermedad/genética , Glycine max/genética , Enfermedades de las Plantas/genética , Potyvirus/patogenicidad , Mapeo Cromosómico , Genes Dominantes , Genes de Plantas , Marcadores Genéticos , Genotipo , Repeticiones de Microsatélite , Enfermedades de las Plantas/virología , Polimorfismo de Nucleótido Simple , Selección Genética , Glycine max/virologíaAsunto(s)
Células Germinativas/metabolismo , Hidropesía Fetal/diagnóstico , Mosaicismo , Talasemia alfa/diagnóstico , Aborto Eugénico , Adulto , Familia , Femenino , Eliminación de Gen , Genes Recesivos , Mutación de Línea Germinal , Hemoglobinas Anormales/efectos adversos , Hemoglobinas Anormales/genética , Humanos , Hidropesía Fetal/sangre , Hidropesía Fetal/genética , Hallazgos Incidentales , Embarazo , Ultrasonografía Prenatal , Talasemia alfa/genéticaRESUMEN
Patients with the ß0/ß0 type of ß-thalassemia (ß-thal) usually present as ß-thal major (ß-TM), and are transfusion-dependent. However, the clinical and hematological features of ß-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We report a Chinese family with twin brothers, both of whom had the same genotype of ß0/ß0. One twin was diagnosed as ß-TM at 4 months of age and had regularly been transfused; conversely the other twin with a KLF1 (Krüppel-like factor 1) gene mutation, behaved as ß-thal intermedia (ß-TI), and had never been transfused. Our findings indicate that KLF1 mutations have a role in modulating the phenotypic severity of ß-thal. The exact investigation of KLF1 modifiers is necessary in areas where globin gene disorders are most prevalent. This will be helpful in genetic counseling and optimizing the guidelines for prenatal diagnosis (PND) programs.
Asunto(s)
Factores de Transcripción de Tipo Kruppel/genética , Mutación , Talasemia beta/patología , Pueblo Asiatico , Genotipo , Humanos , Lactante , Masculino , Fenotipo , Gemelos/genética , Talasemia beta/diagnósticoRESUMEN
KEY MESSAGE: In the soybean cultivar Suweon 97, BCMV-resistance gene was fine-mapped to a 58.1-kb region co-localizing with the Soybean mosaic virus (SMV)-resistance gene, Rsv1-h raising a possibility that the same gene is utilized against both viral pathogens. Certain soybean cultivars exhibit resistance against soybean mosaic virus (SMV) or bean common mosaic virus (BCMV). Although several SMV-resistance loci have been reported, the understanding of the mechanism underlying BCMV resistance in soybean is limited. Here, by crossing a resistant cultivar Suweon 97 with a susceptible cultivar Williams 82 and inoculating 220 F2 individuals with a BCMV strain (HZZB011), we observed a 3:1 (resistant/susceptible) segregation ratio, suggesting that Suweon 97 possesses a single dominant resistance gene against BCMV. By performing bulked segregant analysis with 186 polymorphic simple sequence repeat (SSR) markers across the genome, the resistance gene was determined to be linked with marker BARSOYSSR_13_1109. Examining the genotypes of nearby SSR markers on all 220 F2 individuals then narrowed down the gene between markers BARSOYSSR_13_1109 and BARSOYSSR_13_1122. Furthermore, 14 previously established F2:3 lines showing crossovers between the two markers were assayed for their phenotypes upon BCMV inoculation. By developing six more SNP (single nucleotide polymorphism) markers, the resistance gene was finally delimited to a 58.1-kb interval flanked by BARSOYSSR_13_1114 and SNP-49. Five genes were annotated in this interval of the Williams 82 genome, including a characteristic coiled-coil nucleotide-binding site-leucine-rich repeat (CC-NBS-LRR, CNL)-type of resistance gene, Glyma13g184800. Coincidentally, the SMV-resistance allele Rsv1-h was previously mapped to almost the same region, thereby suggesting that soybean Suweon 97 likely relies on the same CNL-type R gene to resist both viral pathogens.
Asunto(s)
Resistencia a la Enfermedad/genética , Genes de Plantas , Glycine max/genética , Enfermedades de las Plantas/genética , Potyvirus , Mapeo Cromosómico , Genes Dominantes , Marcadores Genéticos , Repeticiones de Microsatélite , Enfermedades de las Plantas/virología , Polimorfismo de Nucleótido Simple , Glycine max/virologíaRESUMEN
KEY MESSAGE: The divergence patterns of NBS - LRR genes in soybean Rsv3 locus were deciphered and several divergent alleles ( NBS_C, NBS_D and Columbia NBS_E ) were identified as the likely functional candidates of Rsv3. The soybean Rsv3 locus, which confers resistance to the soybean mosaic virus (SMV), has been previously mapped to a region containing five nucleotide binding site-leucine-rich repeats (NBS-LRR) genes (referred to as nbs_A-E) in Williams 82. In resistant cultivars, however, the number of NBS-LRR genes in this region and their divergence from susceptible alleles remain unclear. In the present study, we constructed and screened a bacterial artificial chromosome (BAC) library for an Rsv3-possessing cultivar, Zaoshu 18. Sequencing two positive BAC inserts on the Rsv3 locus revealed that Zaoshu 18 possesses the same gene content and order as Williams 82, but two of the NBS-LRR genes, NBS_C and NBS_D, exhibit distinct features that were not observed in the Williams 82 alleles. Obtaining these NBS-LRR genes from eight additional cultivars demonstrated that the NBS_A-D genes diverged into two different alleles: the nbs_A-D alleles were associated with the rsv3-type cultivars, whereas the NBS_A-D alleles were associated with the Rsv3-possessing cultivars. For the NBS_E gene, the cultivar Columbia possesses an allele (NBS_E) that differed from that in Zaoshu 18 and rsv3-type cultivars (nbs_E). Exchanged fragments were further detected on alleles of the NBS_C-E genes, suggesting that recombination is a major force responsible for allele divergence. Also, the LRR domains of the NBS_C-E genes exhibited extremely strong signals of positive selection. Overall, the divergence patterns of the NBS-LRR genes in Rsv3 locus elucidated by this study indicate that not only NBS_C but also NBS_D and Columbia NBS_E are likely functional alleles that confer resistance to SMV.
Asunto(s)
Resistencia a la Enfermedad/genética , Glycine max/genética , Enfermedades de las Plantas/genética , Potyvirus , Alelos , Genes de Plantas , Enfermedades de las Plantas/virología , Glycine max/virologíaAsunto(s)
Anemia Diseritropoyética Congénita , Glicoproteínas/genética , Hidropesía Fetal , Mutación , Adulto , Anemia Diseritropoyética Congénita/diagnóstico , Anemia Diseritropoyética Congénita/genética , Femenino , Humanos , Hidropesía Fetal/diagnóstico , Hidropesía Fetal/genética , Recién Nacido , Masculino , Proteínas NuclearesRESUMEN
KEY MESSAGE: The Rsv1 - h gene in cultivar Suweon 97, which confers resistance to SMVs, was mapped to a 97.5-kb location (29,815,195-29,912,667 bp on chromosome 13) in the Rsv1 locus, thereby providing additional insights into the molecular nature underlying variations in resistance alleles in this particular locus. Soybean mosaic virus (SMV) is a well-known devastating pathogen of soybean (Glycine max (L.) Merrill.) causing significant yield losses and seed quality deterioration. A single dominant allele, Rsv1-h, which confers resistance to multiple SMV strains, was previously reported in the cultivar Suweon 97, but its exact location is unknown. In the present study, Suweon 97 was crossed with a SMV-sensitive cultivar, Williams 82. Inoculating 267 F 2 individuals with two Chinese SMV strains (SC6-N and SC7-N) demonstrated that one single dominant gene confers SMV resistance. Another 1,150 F 2 individuals were then screened for two simple sequence repeat (SSR) markers (BARCSOYSSR_13_1103 and BARCSOYSSR_13_1187) that flank the Rsv1 locus. Seventy-four recombinants were identified and 20 additional polymorphic SSR markers within the Rsv1 region were then employed in genotyping these recombinants. F 2:3 and F 3:4 recombinant lines were also inoculated with SC6-N and SC7-N to determine their phenotypes. The final data revealed that in Suweon 97, the Rsv1-h gene that confers resistance to SC6-N and SC7-N was flanked by BARCSOYSSR_13_1114 and BARCSOYSSR_13_1115, two markers that delimit a 97.5-kb region in the reference Williams 82 genome. In such region, eight genes were present, of which two, Glyma13g184800 and Glyma13g184900, encode the characteristic CC-NBS-LRR type of resistance gene and were considered potential candidates for Rsv1-h.
Asunto(s)
Resistencia a la Enfermedad/genética , Genes de Plantas , Glycine max/genética , Enfermedades de las Plantas/genética , Potyvirus , Cruzamientos Genéticos , ADN de Plantas/genética , Genes Dominantes , Marcadores Genéticos , Repeticiones de Microsatélite , Fenotipo , Enfermedades de las Plantas/virología , Glycine max/virologíaRESUMEN
OBJECTIVE: To understand the endemic dynamic and situation of schistosomiasis in the Xixi National Wetland Park. METHODS: The surveillances of Oncomelania hupensis snail situation and the schistosome infection status of the permanent residents and floating population in the Xixi National Wetland were conducted annually from 2012 to 2014 according to the Surveillance Programs of Schistosomiasis in Surveillance Sites of Zhejiang Province. RESULTS: From 2012 to 2014, accumulatively 12.31 hm2 of area, 4965 m2 of vegetation and 75,379 alien plants were surveyed in the Xixi National Wetland Park, and no Oncomelania snails were found. The seropositive rates in the permanent residents and floating population were 0.71% (5/706) and 1.36% (25/1 834), respectively, and 1 imported chronic schistosomiasis case was found in 2014. Totally 3 006 floating personnel were involved in the investigation of infection status and awareness on knowledge of schistosomiasis control in 2013, the sero-positive rate was 0.63% (19/3 006), and the rates of those from endemic and non-endemic areas were 1.00% (15/1 503) and 0.27% (4/1 503), respectively, and the difference was statistically significant ( χ2 = 6.41, P < 0.05). The results of the fecal examinations among the seropositive cases were all negative. The awareness rates on the Regulation of Schistosomiasis Control and Prevention as well as related knowledge about Oncomelania snails were low. The indoor survival experiment of Oncomelania snails showed the survival rates of Oncomelania snails were 58.33% and 1.25% after observing for 3 and 6 months respectively. CONCLUSIONS: The Xixi National Wetland Park is suitable for Oncomelania snails to inhabit and breed. The imported cases in floating population pose a serious threat to the endemic situation of schistosomiasis in local. In the future, the surveillance on snails and floating population as well as the health education should be strengthened.
Asunto(s)
Parques Recreativos , Vigilancia de la Población/métodos , Esquistosomiasis/diagnóstico , Humedales , Adolescente , Adulto , Anciano , Animales , Niño , China/epidemiología , Ecosistema , Enfermedades Endémicas/prevención & control , Heces/parasitología , Femenino , Interacciones Huésped-Parásitos , Humanos , Masculino , Persona de Mediana Edad , Dinámica Poblacional , Esquistosomiasis/epidemiología , Esquistosomiasis/parasitología , Caracoles/crecimiento & desarrollo , Caracoles/parasitología , Adulto JovenRESUMEN
AIM: We aimed to evaluate the effectiveness of the application of activated autologous monocytes/macrophages (Mo/Mp) on wound healing in diabetic rats. METHODS: Sixty male SD rats were equally divided into the following: control group (normal, nondiabetic), PBS-treated diabetic group, and tumor necrotic factor alpha (TNF-α) plus interferon-γ (IFN-γ)-stimulated or unstimulated Mo/Mp-treated diabetic group. Full-thickness round wounds (1cm×1cm) were created in the right hind foot of rats and the wounds were treated with PBS or Mo/Mp on day 1 after injury. In the following 14 days, the percentage of wound contraction was measured, histologic examination was performed with hematoxylin and eosin staining, and vascular endothelial growth factor (VEGF) in the wound was evaluated by Western blot analysis. RESULTS: Diabetic rats exhibited impaired wound healing with delayed angiogenesis and VEGF expression. The early application of TNF-α plus IFN-γ-stimulated autologous Mo/Mp to diabetic wounds significantly improved the delayed wound healing through the stimulation of angiogenesis and re-epithelization, as well as restoring the defect in VEGF expression. CONCLUSIONS: Mo/Mp activated by TNF-α and IFN-γ promotes diabetic wound healing and normalizes the defect in VEGF regulation associated with diabetes-induced skin-repair disorders.
Asunto(s)
Diabetes Mellitus Experimental/fisiopatología , Macrófagos/fisiología , Monocitos/fisiología , Cicatrización de Heridas/fisiología , Animales , Interferón gamma/farmacología , Macrófagos/trasplante , Masculino , Monocitos/trasplante , Ratas , Factor de Necrosis Tumoral alfa/farmacología , Factor A de Crecimiento Endotelial Vascular/biosíntesis , Cicatrización de Heridas/efectos de los fármacosRESUMEN
Thanatophoric dysplasia (TD) is a relatively common lethal skeletal dysplasia. These malformations result from the mutations in fibroblast growth factor receptor 3 (FGFR3) gene, which is located on the short arm of chromosome 4. Accurate diagnosis of fetal TD is important for patient counseling and to plan the management. A definite diagnosis can be established by molecular genetic analysis to find out the abnormal mutations in the FGFR3 gene. We reported on two cases of TD type I found by prenatal ultrasound and confirmed by molecular analysis of FGFR3 gene using high-resolution melting analysis.
Asunto(s)
Mutación , Diagnóstico Prenatal/métodos , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos , Displasia Tanatofórica/diagnóstico , Displasia Tanatofórica/genética , Adulto , Secuencia de Bases , Femenino , Enfermedades Fetales , Humanos , Embarazo , Complicaciones del Embarazo/diagnóstico , Complicaciones del Embarazo/genética , Adulto JovenRESUMEN
BACKGROUND: α-Thalassemia is one of the most commonly inherited single-gene disorders in southern China. It is important to identify non-deletional α-thalassemia in areas where α-thalassemia is prevalent, since non-deletional HbH disease (--/α(T)α or --/αα(T)) is caused by the interaction of a non-deletional α-thalassemia with α-thalassemia-1 trait (--/αα). In this study, we developed an optimized molecular protocol for screening for α-globin gene mutations and validated the feasibility of using it as a rapid detection method. METHODS: An approach based on high-resolution melting (HRM) analysis was used. A total of 74 samples, including 54 abnormal α-chain samples and 20 control samples, were tested. RESULTS: All of the 54 samples with point mutations at the exons 1, 2 or 3 of the α-globin genes, including 33 non-deletional α-thalassemia, were successfully detected. CONCLUSIONS: HRM has the potential to become an efficient, rapid screening method for non-deletional α-thalassemia.
Asunto(s)
Pruebas Genéticas , Hemoglobinas Anormales/genética , Mutación , Temperatura de Transición , Globinas alfa/genética , Variación Genética , Humanos , Talasemia alfa/genéticaRESUMEN
We have identified a new α chain hemoglobin (Hb) variant in a Chinese family. Sequencing of the amplified α2-globin gene revealed a 9 nucleotide (nt) deletion (-C GAG TAT GG) at codons 22-25, which results in a predicted α-globin chain that is missing amino acid residues 23-25 (Glu-Tyr-Gly) and the formation of Hb Zhanjiang.
Asunto(s)
Electrocromatografía Capilar , Codón , Globinas alfa/genética , Secuencia de Aminoácidos , Secuencia de Bases , China , Femenino , Humanos , Masculino , Datos de Secuencia Molecular , Eliminación de Secuencia , Adulto Joven , Talasemia beta/diagnóstico , Talasemia beta/genéticaRESUMEN
Type 1 thanatophoric dysplasia (TD) is typically a lethal dwarfism. It is not always possible to distinguish fetuses with TD from other skeletal dysplasia in utero by ultrasonography. A definite diagnosis should be established by molecular genetic analysis to find out the abnormal mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene. Among the known mutations of this gene, the C742T (R248C) mutation is the most common one associated with type 1 TD. Exon 7 of the FGFR3 gene was analyzed in 10 prenatal samples with type 1 TD, as well as in 30 control individuals for the presence of the c.742 C > T variant using melting curve analysis with a high-resolution melting instrument. The high-resolution melting curve analysis successfully genotyped this mutation in all 10 samples with type 1 TD without the need of further assays. The technique had a sensitivity and specificity of 100%. This study suggest that high-resolution melting analysis is a simple, rapid, and sensitive one tube assay for genotyping the FGFR3 gene.
Asunto(s)
Pruebas Genéticas/métodos , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , Displasia Tanatofórica/genética , Estudios de Casos y Controles , Enfermedades Fetales/diagnóstico , Enfermedades Fetales/genética , Genotipo , Humanos , Desnaturalización de Ácido Nucleico , Polimorfismo de Nucleótido Simple , Diagnóstico Prenatal/métodos , Displasia Tanatofórica/diagnósticoRESUMEN
OBJECTIVE: To explore the clinical therapeutic effect of acupuncture on hypertension of phlegm-stasis blocking collateral type and the mechanism. METHODS: Sixty cases of hypertension were randomly divided into a treatment group and a control group, 30 cases in each group. The treatment group were treated with acupuncture at Fengchi (GB 20), Quchi (LI 11), Neiguan (PC 6), Zusanli (ST 36), Fenglong (ST 40), Taicehong (LR 3), and oral administration of Captori, and the control group only with Captoril, for 4 therapeutic courses. The changes of blood pressure, clinical symptoms, hemorheologic parameters, C-reactive protein (CRP), TC, TG, HDL and LDL levels after treatment were observed. RESULTS: In the treatment group, blood pressure significantly decreased, and contents of CRP, TC, TG and LDHD decrease, the hemorheologic parameters improved and HDL level increased. Both the cumulative scores of clinical symptoms and the therapeutic effect for each symptom were improved significantly, with very significant differences as compared with those before treatment and the control group (P < 0.01). CONCLUSION: Acupuncture treatment has obvious effect of decreasing blood pressure, and reverses or delays the course of atherosclerosis, which mechanisms are possibly related with the function of protecting vascular endothelium.