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1.
Sci Rep ; 14(1): 6380, 2024 03 16.
Artigo em Inglês | MEDLINE | ID: mdl-38493184

RESUMO

Globally, salinity is an important abiotic stress in agriculture. It induced oxidative stress and nutritional imbalance in plants, resulting in poor crop productivity. Applying silicon (Si) can improve the uptake of macronutrients. On the other hand, using biochar as a soil amendment can also decrease salinity stress due to its high porosity, cation exchange capacity, and water-holding capacity. That's why the current experiment was conducted with novelty to explore the impact of silicon nanoparticle-based biochar (Si-BC) on wheat cultivated on salt-affected soil. There were 3 levels of Si-BC, i.e., control (0), 1% Si-BC1, and 2.5% Si-BC2 applied in 3 replicates under 0 and 200 mM NaCl following a completely randomized design. Results showed that treatment 2.5% Si-BC2 performed significantly better for the enhancement in shoot and root length, shoot and root fresh weight, shoot and root dry weight, number of leaves, number of tillers, number of spikelets, spike length, spike fresh and dry weight compared to control under no stress and salinity stress (200 mM NaCl). A significant enhancement in chlorophyll a (~ 18%), chlorophyll b (~ 22%), total chlorophyll (~ 20%), carotenoid (~ 60%), relative water contents (~ 58%) also signified the effectiveness of treatment 2.5% Si-BC2 than control under 200 mM NaCl. In conclusion, treatment 2.5% Si-BC2 can potentially mitigate the salinity stress in wheat by regulating antioxidants and improving N, K concentration, and gas exchange attributes while decreasing Na and Cl concentration and electrolyte leakage. More investigations at the field level are recommended for the declaration of treatment 2.5% Si-BC2 as the best amendment for alleviating salinity stress in different crops under variable climatic conditions.


Assuntos
Carvão Vegetal , Silício , Antioxidantes/farmacologia , Clorofila A , Nutrientes , Salinidade , Estresse Salino , Silício/farmacologia , Cloreto de Sódio , Solo , Triticum , Água
2.
Chem Sci ; 14(22): 5945-5955, 2023 Jun 07.
Artigo em Inglês | MEDLINE | ID: mdl-37293662

RESUMO

Chemical modifications of CRISPR-Cas nucleases help decrease off-target editing and expand the biomedical applications of CRISPR-based gene manipulation tools. Here, we found that epigenetic modifications of guide RNA, such as m6A and m1A methylation, can effectively inhibit both the cis- and trans-DNA cleavage activities of CRISPR-Cas12a. The underlying mechanism is that methylations destabilize the secondary and tertiary structure of gRNA which prevents the assembly of the Cas12a-gRNA nuclease complex, leading to decreased DNA targeting ability. A minimum of three adenine methylated nucleotides are required to completely inhibit the nuclease activity. We also demonstrate that these effects are reversible through the demethylation of gRNA by demethylases. This strategy has been used in the regulation of gene expression, demethylase imaging in living cells and controllable gene editing. The results demonstrate that the methylation-deactivated and demethylase-activated strategy is a promising tool for regulation of the CRISPR-Cas12a system.

3.
Plant Physiol Biochem ; 196: 859-867, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36871496

RESUMO

Chromium is a highly toxic heavy metal. High concentrations of Cr (III) can affect metabolic processes in plants, resulting in different morphological, physiological, and biochemical defects. Agricultural practices such as sewage irrigation, over-fertilization, and sewage sludge application contribute significantly to Cr contamination. It can reduce the growth of plants by affecting the activity of antioxidant enzymes. The materials in nano form play an important role in nano-remediation and heavy metals absorption due to their high surface area and micropores. This research was conducted to study the potential of foliar application of nanobiochar/nBC (100 mg/L-1 and 150 mg/L-1) for mitigation of Cr (III) stress (200 mg/kg and 300 mg/kg) in black cumin (Nigella sativa) plants. The results showed that increased Cr stress (300 mg/kg) decreased the plant growth parameters, chlorophyll content, total soluble sugars, and proteins. However, increased the level of hydrogen peroxide (H2O2) and malondialdehyde acetate (MDA) as a result of the activity of antioxidant enzymes (Catalase, Superoxide dismutase, peroxidase dismutase, and ascorbic peroxidase) increased in Nigella sativa seedlings. Foliar application of the nBC (100 mg/L-1) increased plant growth parameters, chlorophyll content, and osmoprotectants, while decreasing the levels of oxidative stress markers (H2O2 and MDA). Furthermore, with the application of nBC, the antioxidant enzyme activity considerably improved. Improved antioxidant activity shows that nBC helped to decrease oxidative stress, which in return improved the growth of Nigella sativa seedlings. Overall, present study findings concluded that foliar application of nBC in Nigella sativa seedlings improved growth, chlorophyll, and antioxidant enzymes. The nBC treatment of 100 mg/L-1 showed better results compared to 150 mg/L-1 under chromium stress.


Assuntos
Nigella sativa , Poluentes do Solo , Antioxidantes/metabolismo , Nigella sativa/metabolismo , Solo , Peróxido de Hidrogênio/metabolismo , Esgotos , Estresse Oxidativo , Clorofila/metabolismo , Peroxidases , Cromo/toxicidade , Poluentes do Solo/toxicidade
4.
Plant Physiol Biochem ; 196: 130-138, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-36706692

RESUMO

Chromium (Cr) is a hazardous metal that has a significant risk of transfer from soil to edible parts of food crops, including shoot tissues. Reduction of Cr accumulation is required to lower the risk of Cr-exposed in humans and animals feeding on metal-contaminated parts of such plant. Zea mays is a global staple crop irrigated intensively with Cr-contaminated water. Consequently, the objective of this study was to investigate that FI-stabilized ZnO NPs could be used as an eco-friendly and efficient amendment to reduced Cr uptake and toxicity in Zea mays. To investigate the growth parameters, physiological, oxidative stress and biochemical parameters under different Cr-VI concentrations (10.0, 15.0, and 20.0 ppm). Cr exposed Z. mays plants exhibited substantially reduced plant biomass, chlorophyll contents, and altered antioxidant enzyme activity compared to untreated control. The results revealed that foliar application of Fagonia-ZnO-NPs helps eliminate the harmful effects of Cr (VI), which can enter plants through soil pollution. Increased levels of proline, soluble sugars and various antioxidant enzymes reflected this. Mean comparisons showed that Cr stress led to a 33-50% reduction in fresh shoot weight, 73-170% in fresh root weight, 16-34% shoot length, 9.5-129% root length, Chlorophyll contents 20-33% (Chl a), 18-27% (Chl b) and 17-27% (car), 14-33% total soluble sugars, 54-170% proline content, 7-7.5% POD, 0.66-75% CAT and 32-77% APX enzyme activities compared to untreated plants. Application of FI-stabilized ZnO NPs led to an increase 21-77% in fresh shoot weight, 22-45%, fresh root weight, 3-35% shoot length, 24-154% root length, Chlorophyll contents 39-60% (Chl a), 15-79% (Chl b) and 28-82% (car), 19-52% total soluble sugars, 21-55% proline content, 14-43% POD, 34-95% CAT and 130-186% APX enzyme activities under 10, 15 and 20 ppm Cr stress respectively, compared to Cr-treated plants. However, the principal component analysis revealed that chlorophyll contents, carotenoid, CAT, APX and length were in the same group and showed a positive correlation. These data collectively suggest that phytostabilized zinc oxide NPs may be an eco-friendly solution to mitigate Cr toxicity in agricultural soils and crop plants.


Assuntos
Nanopartículas , Poluentes do Solo , Óxido de Zinco , Humanos , Antioxidantes , Óxido de Zinco/farmacologia , Zea mays , Clorofila/análise , Cromo/toxicidade , Prolina , Poluentes do Solo/toxicidade , Poluentes do Solo/análise
5.
Front Plant Sci ; 13: 900347, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35982701

RESUMO

Among heavy metals, cadmium (Cd) is one of the toxic metals, which significantly reduce the growth of plants even at a low concentration. Cd interacts with various plant mechanisms at the physiological and antioxidant levels, resulting in decreased plant growth. This research was conducted to exploit the potential of synergistic application of zinc oxide nanoparticles (ZnO NPs) and Moringa oleifera leaf extract in mitigation of Cd stress in linseed (Linum usitatissimum L.) plants. The main aim of this study was to exploit the role of M. oleifera leaf extract and ZnO NPs on Cd-exposed linseed plants. Cd concentrations in the root and shoot of linseed plants decreased after administration of MZnO NPs. Growth parameters of plants, antioxidant system, and physiochemical parameters decreased as the external Cd level increased. The administration of MZnO NPs to the Cd-stressed linseed plant resulted in a significant increase in growth and antioxidant enzymes. Furthermore, the antioxidative enzymes superoxide dismutase (SOD), peroxidase (POD), catalase (CAT), and ascorbate peroxidase (APX) exhibited a considerable increase in the activity when MZnO NPs were applied to Cd-stressed seedlings. The introduction of MZnO NPs lowered the levels of malondialdehyde (MDA) and hydrogen peroxide (H2O2) in the linseed plant grown in Cd-toxic conditions. The NPs decreased electrolyte leakage (EL) in Cd-stressed linseed leaves and roots. It was concluded that synergistic application of ZnO NPs and M. oleifera leaf extract alleviated Cd stress in linseed plants through enhanced activity of antioxidant enzymes. It is proposed that role of MZnO NPs may be evaluated for mitigation of numerous abiotic stresses.

6.
Int J Artif Organs ; 45(1): 14-26, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33706595

RESUMO

In the current study, dahllite/hydroxyapatite/collagen filler extracted via calcination of wasted chicken bone was blended with PSf polymer to obtain highly biocompatible, and antifoulant hemodialysis membranes. FTIR and Raman spectroscopic analysis was done to obtain information about the bonding chemistry of the obtained filler. The intermolecular interaction that existed between dahllite/hydroxyapatite/collagen filler and pristine PSf was confirmed by Raman spectroscopic study. The PSf polymer exhibited a sponge-like structure owing to its high thickness and slow exchange with non-solvent in coagulation bath whilst the instantaneous de-mixing course produced finger-like capillaries in dahllite/hydroxyapatite/collagen filler based PSf membranes as exposed by SEM photographs. The presence of different wt. % of filler composition in the PSf matrix improved the mechanical strength as revealed by fatigue analysis. The hydrophilic character improved by 78% while leaching consistency adjusted to 0%-4%. Pure water permeation (PWP) flux improved by nine times. The pore profile improved with the addition of filler as revealed by hydrophilicity experiment, PWP flux, and SEM micrographs. Fouling evaluation results disclosed that filler based membranes showed 36% less adsorption of protein (BSA) solution together with more than 84% flux recovery ratio. The biocompatibility valuation analysis unveiled that membranes composed of filler showed extended prothrombin and thrombin coagulation times, reduced activation of fibrinogen mass, and less adhesion of plasma proteins in comparison with pristine PSf membrane. The adsorption capacity of fabricated membranes for urea and creatinine improved by 31% (in the case of urea) and 34% (in the case of creatinine) in contrast with pristine PSf membrane. The overall results showed that the M-3 membrane was optimized in terms of surface properties, protein adhesion, anticoagulation activity, and adsorption amount of urea and creatinine.


Assuntos
Materiais Biocompatíveis , Osso e Ossos/química , Durapatita , Animais , Apatitas , Galinhas , Colágeno , Membranas Artificiais , Polímeros , Diálise Renal , Sulfonas
7.
Beilstein J Nanotechnol ; 12: 624-632, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34285865

RESUMO

Silver nanowires (AgNWs) with ultrahigh purity and high yield were successfully synthesized by employing a modified facile polyol method using PVP as a capping and stabilizing agent. The reaction was carried out at a moderate temperature of 160 °C under mild stirring for about 3 h. The prepared AgNWs exhibited parallel alignment on a large scale and were characterized by UV-vis spectroscopy, scanning electron microscopy (SEM), X-ray diffraction (XRD), and PL spectroscopy. The luminescent AgNWs exhibited red emission, which was accredited to deep holes. The SEM results confirmed the formation of AgNWs of 3.3 to 4.7 µm in length with an average diameter of about 86 nm, that is, the aspect ratio values of the AgNWs exceeded 45. An ink consisting of hydroxyethyl cellulose (HEC) and AgNWs was transferred to polyethylene terephthalate (PET) films by simple mechanical pressing. The PET films retained transparency and flexibility after the ink coating. The maximum transmittance value of as-prepared PET films in the visible region was estimated to be about 92.5% with a sheet resistance value of ca. 20 Ω/sq. This makes the films a potential substitute to commonly used expensive indium tin oxide (ITO) in the field of flexible optoelectronics.

8.
Mater Sci Eng C Mater Biol Appl ; 103: 109769, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31349444

RESUMO

Non-covalent electrostatic interaction between amide nitrogen and carbonyl carbon of shorter chain length of polyvinylpyrrolidone (PVP-k25) was developed with in-house carboxylic oxidized multiwall carbon nanotubes (O-MWCNT) and then blended with Polyethersulfone (PES) polymer. FTIR analysis was utilized to confirm bonding nature of nano-composites (NCs) of O-MWCNT/PVP-k25 and casting membranes. Non-solvent induces phase separation process developed regular finger-like channels in composite membranes whereas pristine PES exhibited spongy entities as studied by cross sectional analysis report of FESEM. Further, FESEM instrument was also utilized to observe the dispersion of O-MWCNT/PVP based nanocomposite (NCs) with PES and membranes leaching phenomena analysis. Contact angle experiments described 24% improvement of hydrophilic behaviour, leaching ratio of additives was reduced to 1.89%, whereas water flux enhanced up to 6 times. Bovine serum albumin (BSA) and lysozyme based antifouling analysis shown up to 25% improvement, whereas 84% of water flux was regained after protein fouling than pristine PES. Anticoagulant activity was reported by estimating prothrombin, thrombin, plasma re-calcification times and production of fibrinogen cluster with platelets-adhesions photographs and hemolysis experiments. Composite membranes exhibited 3.4 and 3 times better dialysis clearance ratios of urea and creatinine solutes as compared to the raw PES membrane.


Assuntos
Anticoagulantes/química , Membranas Artificiais , Nanocompostos/química , Nanotubos/química , Polímeros/química , Diálise Renal/instrumentação , Sulfonas/química , Humanos
9.
Biosens Bioelectron ; 117: 852-859, 2018 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-30096740

RESUMO

This work is the first report describing the solution grown 3D manganese oxide nanofibrous (MnO2 NFs) mesh and its potential for the simultaneous detection of biomolecules such as ascorbic acid and uric acid. The mesh is synthesized by a facile, one-pot, and cost-effective hydrothermal approach without using any template or structure directing compound. The morphology consists of randomly placed nanofibres possessing a diameter in the range of 10-25 nm, and length of several micron; constituting a highly porous and flexible material. The electrochemical potential was examined by recording cyclic voltammetry signals towards ascorbic acid and uric acid. The special mesh morphology offers a large surface area to promote enhanced electrochemical activity, and also provided a macroporous network that supported efficient mass transport. Additionally, the strong electronic cloud and roughness of MnO2 NFs mesh facilitated the fast oxidation of species at very low potential. The lower detection limit was found to be 1.33 µM (S/N = 3) and 1.03 µM (S/N = 3) for ascorbic acid and uric acid, respectively. The MnO2 NFs mesh modified electrodes can robustly differentiate both of them by giving well separate signals (Δ = 500 mV) indicating capability of the material towards selective detection. The sensor has been successfully applied to human blood and urine samples and the recoveries were found statistically significant. These results demonstrate the practical feasibility of 3D mesh to develop sensors for the accurate diagnosis of clinically important molecules.


Assuntos
Ácido Ascórbico/análise , Técnicas Biossensoriais/métodos , Técnicas Eletroquímicas/métodos , Compostos de Manganês/química , Nanofibras/química , Óxidos/química , Ácido Úrico/análise , Eletrodos , Humanos , Limite de Detecção , Oxirredução , Tamanho da Partícula , Sensibilidade e Especificidade , Propriedades de Superfície
10.
Pak J Med Sci ; 34(2): 247-252, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29805388

RESUMO

BACKGROUND & OBJECTIVES: Lipoprotein-A has been recognized as a risk factor for ischemic heart diseases. Myocardial infarction (MI) is common complication of ischemic heart disease. Diabetes play an incremental role in the development of coronary artery disease (CAD), however still there are conflicting data regarding the relationship of Lipoprotein-B and MI. We therefore wanted to evaluate the relationship of Lipo-B, MI and diabetes mellitus. Our objective was to determine the non-fasting Apo-lipoprotein B and triglycerides level among type II diabetic patients with ischemic heart disease and to compare with type II diabetic without ischemic heart disease. METHODS: This was cross sectional study where two groups of patients were recruited in the study, Group-I included patient with Ischemic Heart Disease and diabetes while Group-II comprised of diabetes without Ischemic Heart Disease. Age, sex and basic demographic matching was done between the two groups. Data were collected using random sample. The comparative approach was used to see the role of diabetes in the elevation of Apo-lipoprotein B level, which is a risk factor for Ischemic heart diseases. RESULTS: Two hundred forty eight patients (Cases: 123 Diabetic with myocardial infarction and (Control: 125 Diabetic without myocardial infarction) were included in the study. Mean Apo-B among diabetic patients with myocardial infarction was high (68.3±24.23 ng/ml) compared to non-cardiac patients (49.97±33.880 ng/ml) with a p <0.000. Marked difference was also observed in triglycerides levels where it was found very high (301.4±55.1 mg/dL) in patients of diabetes with myocardial infarction as compared to subjects without MI (137.7±84.7 mg/dL). There was positive correlation between Apo-lipoprotein and Triglycerides (P value=039). CONCLUSION: Based on the study result it was concluded that Apo-lipoprotein and triglycerides in diabetic patients with myocardial infarction, had higher levels compared to diabetic patients without Myocardial infarction and this could be a consequence of increase in age, insulin resistance and deficiency of insulin in the body. We also found positive correlation between Apo-lipoprotein and Triglycerides.

11.
Sci Rep ; 7(1): 9150, 2017 08 22.
Artigo em Inglês | MEDLINE | ID: mdl-28831157

RESUMO

It is known that bulk metallic glasses follow simple composition formulas [cluster](glue atom)1 or 3 with 24 valence electrons within the framework of the cluster-plus-glue-atom model. Though the relevant nearest-neighbor cluster can be readily identified from a devitrification phase, the glue atoms remains poorly defined. The present work is devoted to understanding the composition rule of Fe-(B,P,C) based multi-component bulk metallic glasses, by introducing a cluster-based eutectic liquid model. This model regards a eutectic liquid to be composed of two stable liquids formulated respectively by cluster formulas for ideal metallic glasses from the two eutectic phases. The dual cluster formulas are first established for binary Fe-(B,C,P) eutectics: [Fe-Fe14]B2Fe + [B-B2Fe8]Fe ≈ Fe83.3B16.7 for eutectic Fe83B17, [P-Fe14]P + [P-Fe9]P2Fe≈Fe82.8P17.2 for Fe83P17, and [C-Fe6]Fe3 + [C-Fe9]C2Fe ≈ Fe82.6C17.4 for Fe82.7C17.3. The second formulas in these dual-cluster formulas, being respectively relevant to devitrification phases Fe2B, Fe3P, and Fe3C, well explain the compositions of existing Fe-based transition metals-metalloid bulk metallic glasses. These formulas also satisfy the 24-electron rule. The proposition of the composition formulas for good glass formers, directly from known eutectic points, constitutes a new route towards understanding and eventual designing metallic glasses of high glass forming abilities.

12.
Acta Pol Pharm ; 74(2): 425-434, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29624248

RESUMO

A series of guanidines and their copper (II) complexes were investigated for their radical scavenging activity including peroxyl radicals (ROO), superoxide anion (O2), hydroxyl ('OH), and reactive hydrogen per- oxide (H202) species. Among the Cu(II) complexes, Cu-MR-9-2 shows the highest, Cu-MR-9-3, Cu-MR-9-6 less and Cu-MR-9-1 least antioxidant potential. The Cu(II) complexes show better Fea'-chelating activity than that of ligands. Among the Cu(II) complexes Cu-MR-9-2 was found to have the highest, Cu-MR-9-6 moderate, MR-9-3 less and Cu-MR-9-1 least ferric reducing capacity. The IC50 values for ligands (MR-9-1, MR-9-2, MR- 9-3, MR-9-6) were determined to be 197.53 ± 7.13, 189.07 ± 7.34, 207.98 ± 6.78 and 233.38 ±6.37 pM, which showed lower antioxidant activity than their Cu(II) complexes. The IC,o values for ascorbic acid were found to be 51.60 ± 13.18 pM. The Cu(I) metal compounds (Cu-MR-9-1,Cu-MR-9-2, Cu-MR-9-3 and Cu-MR-9-6) were detected to be the most powerful scavengers of the hydroxyl radical with IC50 up to 108.03 ± 11.34 pM, 101.41 ±12.10 pM, 90.59 ± 11.53 pM and 88.86 ± 13.16 pM, respectively.


Assuntos
Alternaria/efeitos dos fármacos , Antifúngicos/farmacologia , Antioxidantes/farmacologia , Cobre/farmacologia , Guanidinas/farmacologia , Alternaria/crescimento & desenvolvimento , Antifúngicos/síntese química , Antioxidantes/síntese química , Cobre/química , Testes de Sensibilidade a Antimicrobianos por Disco-Difusão , Relação Dose-Resposta a Droga , Sequestradores de Radicais Livres/síntese química , Sequestradores de Radicais Livres/farmacologia , Guanidinas/síntese química , Quelantes de Ferro/síntese química , Quelantes de Ferro/farmacologia , Espécies Reativas de Oxigênio/química
13.
Hum Genet ; 127(4): 395-401, 2010 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-20054564

RESUMO

Autosomal recessive hypotrichosis is a rare form of human genetic disorder characterized by sparse to absent hair on scalp and rest of the body of affected individuals. Over the past few years at least five autosomal recessive forms of hypotrichosis loci have been mapped on different human chromosomes. In the present study, we report localization of another novel autosomal recessive hypotrichosis locus on human chromosome 10q11.23-22.3 in a four generation consanguineous Pakistani family. All the four patients in the family showed typical features of hereditary hypotrichosis including sparse hair on the scalp and rest of the body. Human genome scan using highly polymorphic microsatellite markers mapped the disease locus to a large region on chromosome 10. This novel locus maps to 29.81 cM (28.5 Mb) region, flanked by markers D10S538 and D10S2327 on chromosome 10q11.23-22.3. A maximum multipoint LOD score of 3.26 was obtained with several markers in this region. DNA sequence analysis of exons and splice-junction sites of four putative candidate genes (P4HA1, ZNF365, ZMYND17, MYST4), located in the linkage interval, were sequenced but were negative for functional sequence variants.


Assuntos
Cromossomos Humanos Par 10/genética , Hipotricose/genética , Mapeamento Cromossômico , Consanguinidade , Análise Mutacional de DNA , Feminino , Genes Recessivos , Humanos , Escore Lod , Masculino , Paquistão , Linhagem
14.
J Dermatol Sci ; 54(1): 12-6, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19167195

RESUMO

BACKGROUND: Autosomal recessive hypotrishosis (LAH2) is a rare form of alopecia characterized by sparse hair on scalp, sparse to absent eyebrows and eyelashes, and sparse auxiliary and body hair. However, affected male individuals have normal beard hair. Mutations in lipase H (LIPH) gene, located on chromosome 3q26.33, have been shown to be responsible for LAH2 type of hypotrichosis. OBJECTIVES: To search for pathogenic mutations in LIPH gene at LAH2 locus in Pakistani families demonstrating autosomal recessive hypotrichosis. METHODS: In the present study we have ascertained two large unrelated consanguineous Pakistani families (A and B) inherited autosomal recessive form of hypotrichosis. Linkage in these families was searched by genotyping microsatellite markers linked to autosomal recessive hypotrichosis loci LAH1, LAH2 and LAH3. Affected individuals showed homozygosity to the microsatellite markers tightly linked to LIPH gene at LAH2 locus on chromosome 3q26.33. These families were then subjected to direct sequencing of the LIPH gene. RESULTS: Sequence analysis of the LIPH gene revealed two novel missense mutations (c.2T>C; p.M1T and c.322T>C; p.W108R) in the two families. CONCLUSION: The mutations reported here are the first missense mutations identified in the LIPH gene, which extend the body of evidences implicating the LIPH gene in the pathogenesis of human hereditary hair loss.


Assuntos
Hipotricose/genética , Lipase/genética , Repetições de Microssatélites/genética , Mutação de Sentido Incorreto/genética , Sequência de Aminoácidos , Sequência de Bases , Predisposição Genética para Doença , Genótipo , Humanos , Hipotricose/patologia , Masculino , Dados de Sequência Molecular , Linhagem , Alinhamento de Sequência
15.
Hum Genet ; 123(5): 515-9, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18461368

RESUMO

Autosomal recessive hypotrichosis (LAH3) is a rare hair disorder characterized by sparse hair on scalp and the rest of the body of affected individuals. Recently mutations in a G protein-coupled receptor gene, P2RY5, located at LAH3 locus, have been reported in several families with autosomal recessive hypotrichosis simplex and woolly hair. For the present study, 22 Pakistani families with autosomal recessive hypotrichosis were enrolled. Genotyping using microsatellite markers linked to three autosomal recessive forms of hypotrichosis (LAH1, LAH2, LAH3) showed the linkage of 2 families to the LAH2 locus and 14 to the LAH3 locus. The remaining 6 families were not linked to any of the three loci. Families linked to LAH3 locus were further subjected to screening of the P2RY5 gene with direct DNA sequencing. Three previously reported variants, c.69insCATG (p.24insHfs52), c.188A > T (p.D63V) and c.565G > A (p.E189K) were observed in eight families. Four novel nonsynonymous sequence variants, c.8G > C (p.S3T), c.36insA (p.D13RfsX16), c.160insA (p.N54TfsX58) and c.436G > A (p.G146R) were found to segregate within six families.


Assuntos
Genes Recessivos , Hipotricose/genética , Mutação Puntual , Receptores Purinérgicos P2/genética , Cromossomos Humanos Par 13/genética , Feminino , Mutação da Fase de Leitura , Humanos , Masculino , Mutação de Sentido Incorreto , Linhagem
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