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1.
Braz. j. biol ; 842024.
Artículo en Inglés | LILACS-Express | LILACS, VETINDEX | ID: biblio-1469311

RESUMEN

Abstract Earias vittellaFabricius, 1794 (Noctuidae: Lepidoptera) is deliberated to be one of the most destructive pests of cotton and okra vegetation in the world including Asia. The pest has established resistance to various synthetic insecticides. The use of bio-pesticide is one of the unconventional approaches to develop a vigorous ecosystem without harming non- target pests and beneficial natural insect fauna. In the present study, the toxicity levels of Citrullus colocynthis seed extract have been evaluated against the populations of E. vittellaunder standardized laboratory conditions. The toxic effects of C. colocynthis on development periods, protein contents and esterase activity of the life stages of E. vittella were also evaluated. The toxicity levels of methanol, ethanol, hexane, water and profenofos were evaluated on the 1st instar larvae of E. vittella. LC30 and LC80 concentrations exhibited the effectiveness of methanol-based C. colocynthis seed extract against 1st instar larvae of E. vitella. The enhanced larval and pupal periods were revealed in treated samples during the comparison with untreated samples. The intrinsic rate of increase, net reproductive rate in the LC30 and LC80 concentrations exposed larvae remained less than the control treatment. Fecundity, the esterase activity and protein contents were declined in LC30 and LC80 treated samples as compared to the control. The present findings suggest that C. colosynthis extracts based botanical insecticides are beneficial, ecosystem sustainable and can be integrated with insect management programs from environment safety perspective.


Resumo Earias vittella Fabricius, 1794 (Noctuidae: Lepidoptera) é considerada uma das pragas mais destrutivas de algodão e quiabo no mundo, incluindo a Ásia. Essa praga estabeleceu resistência a vários inseticidas sintéticos. O uso de biopesticidas é uma das abordagens não convencionais para desenvolver um ecossistema saudável sem prejudicar as pragas não alvo e a fauna natural benéfica de insetos. No presente estudo, os níveis de toxicidade do extrato de semente de Citrullus colocynthis foram avaliados nas populações de E. vittella em condições de laboratório padronizadas. Os efeitos tóxicos de C. colocynthis nos períodos de desenvolvimento, conteúdo de proteína e atividade esterase das fases de vida de E. vittella também foram avaliados. Os níveis de toxicidade de metanol, etanol, hexano, água e profenofós foram avaliados em larvas de 1º instar de E. vittella. As concentrações de LC30 e LC80 apresentaram eficácia do extrato de sementes de C. colocynthis à base de metanol contra larvas de 1º instar de E. vittella. Os períodos larval e pupal aumentados foram revelados nas amostras tratadas durante a comparação com as amostras não tratadas. A taxa intrínseca de aumento e a taxa reprodutiva líquida nas concentrações de larvas expostas LC30 e LC80 permaneceram menores do que o tratamento controle. A fecundidade, a atividade da esterase e o conteúdo de proteína diminuíram nas amostras tratadas com LC30 e LC80 em comparação com o controle. As presentes descobertas sugerem que os extratos de C. colocynthis à base de inseticidas botânicos são benéficos, sustentáveis para o ecossistema e podem ser integrados com programas de manejo de insetos do ponto de vista da segurança ambiental.

2.
Braz. j. biol ; 84: e254479, 2024. tab, graf
Artículo en Inglés | LILACS, VETINDEX | ID: biblio-1355910

RESUMEN

Abstract Earias vittellaFabricius, 1794 (Noctuidae: Lepidoptera) is deliberated to be one of the most destructive pests of cotton and okra vegetation in the world including Asia. The pest has established resistance to various synthetic insecticides. The use of bio-pesticide is one of the unconventional approaches to develop a vigorous ecosystem without harming non- target pests and beneficial natural insect fauna. In the present study, the toxicity levels of Citrullus colocynthis seed extract have been evaluated against the populations of E. vittellaunder standardized laboratory conditions. The toxic effects of C. colocynthis on development periods, protein contents and esterase activity of the life stages of E. vittella were also evaluated. The toxicity levels of methanol, ethanol, hexane, water and profenofos were evaluated on the 1st instar larvae of E. vittella. LC30 and LC80 concentrations exhibited the effectiveness of methanol-based C. colocynthis seed extract against 1st instar larvae of E. vitella. The enhanced larval and pupal periods were revealed in treated samples during the comparison with untreated samples. The intrinsic rate of increase, net reproductive rate in the LC30 and LC80 concentrations exposed larvae remained less than the control treatment. Fecundity, the esterase activity and protein contents were declined in LC30 and LC80 treated samples as compared to the control. The present findings suggest that C. colosynthis extracts based botanical insecticides are beneficial, ecosystem sustainable and can be integrated with insect management programs from environment safety perspective.


Resumo Earias vittella Fabricius, 1794 (Noctuidae: Lepidoptera) é considerada uma das pragas mais destrutivas de algodão e quiabo no mundo, incluindo a Ásia. Essa praga estabeleceu resistência a vários inseticidas sintéticos. O uso de biopesticidas é uma das abordagens não convencionais para desenvolver um ecossistema saudável sem prejudicar as pragas não alvo e a fauna natural benéfica de insetos. No presente estudo, os níveis de toxicidade do extrato de semente de Citrullus colocynthis foram avaliados nas populações de E. vittella em condições de laboratório padronizadas. Os efeitos tóxicos de C. colocynthis nos períodos de desenvolvimento, conteúdo de proteína e atividade esterase das fases de vida de E. vittella também foram avaliados. Os níveis de toxicidade de metanol, etanol, hexano, água e profenofós foram avaliados em larvas de 1º instar de E. vittella. As concentrações de LC30 e LC80 apresentaram eficácia do extrato de sementes de C. colocynthis à base de metanol contra larvas de 1º instar de E. vittella. Os períodos larval e pupal aumentados foram revelados nas amostras tratadas durante a comparação com as amostras não tratadas. A taxa intrínseca de aumento e a taxa reprodutiva líquida nas concentrações de larvas expostas LC30 e LC80 permaneceram menores do que o tratamento controle. A fecundidade, a atividade da esterase e o conteúdo de proteína diminuíram nas amostras tratadas com LC30 e LC80 em comparação com o controle. As presentes descobertas sugerem que os extratos de C. colocynthis à base de inseticidas botânicos são benéficos, sustentáveis ​​para o ecossistema e podem ser integrados com programas de manejo de insetos do ponto de vista da segurança ambiental.


Asunto(s)
Animales , Citrullus colocynthis , Insecticidas , Mariposas Nocturnas , Extractos Vegetales/farmacología , Ecosistema , Larva
3.
Braz J Biol ; 84: e254479, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-35019105

RESUMEN

Earias vittellaFabricius, 1794 (Noctuidae: Lepidoptera) is deliberated to be one of the most destructive pests of cotton and okra vegetation in the world including Asia. The pest has established resistance to various synthetic insecticides. The use of bio-pesticide is one of the unconventional approaches to develop a vigorous ecosystem without harming non- target pests and beneficial natural insect fauna. In the present study, the toxicity levels of Citrullus colocynthis seed extract have been evaluated against the populations of E. vittellaunder standardized laboratory conditions. The toxic effects of C. colocynthis on development periods, protein contents and esterase activity of the life stages of E. vittella were also evaluated. The toxicity levels of methanol, ethanol, hexane, water and profenofos were evaluated on the 1st instar larvae of E. vittella. LC30 and LC80 concentrations exhibited the effectiveness of methanol-based C. colocynthis seed extract against 1st instar larvae of E. vitella. The enhanced larval and pupal periods were revealed in treated samples during the comparison with untreated samples. The intrinsic rate of increase, net reproductive rate in the LC30 and LC80 concentrations exposed larvae remained less than the control treatment. Fecundity, the esterase activity and protein contents were declined in LC30 and LC80 treated samples as compared to the control. The present findings suggest that C. colosynthis extracts based botanical insecticides are beneficial, ecosystem sustainable and can be integrated with insect management programs from environment safety perspective.


Asunto(s)
Citrullus colocynthis , Insecticidas , Mariposas Nocturnas , Animales , Ecosistema , Larva , Extractos Vegetales/farmacología
4.
Andrologia ; 48(5): 509-17, 2016 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26260161

RESUMEN

NR5A1 plays a central role in gonadal development and regulation by transcriptional regulation of key modulators involved in steroidogenesis. Mutations in human NR5A1 are frequently associated with 46,XY disorders of sex development (DSD). We analysed a Pakistani cohort of patients with 46,XY DSD, presenting with variable degrees of gonadal dysgenesis, for NR5A1 mutations. The study identified three mutations (p.Tyr03X, p.Glu07X and p.Gln299HisfsX386), of which two are novel, in these patients with 46,XY DSD. The mutations, p.Tyr03X and novel p.Glu07X, are located in the coding region of the gene, corresponding to DNA-binding domain of the predicted protein. In silico analysis for the novel homozygous p.Gln299HisfsX386 mutation in ligand-binding domain of NR5A1 revealed subtle changes in overall tertiary conformation which is predicted to affect the normal physiology of this mutant protein. This study reveals two novel mutations with altered NR5A1 protein in twenty patients with 46,XY DSD, highlighting the critical role of NR5A1 protein in gonadal development and differentiation. In conclusion, the current and previous studies suggest that the NR5A1 mutations are present in around 8-15% of patients with 46,XY DSD presenting with gonadal dysgenesis. For the clinical utility of NR5A1 gene mutations, more comprehensive studies with large 46,XY DSD patient series in different populations are suggested.


Asunto(s)
Trastorno del Desarrollo Sexual 46,XY/genética , Mutación , Factor Esteroidogénico 1/genética , Adolescente , Codón sin Sentido , Estudios de Cohortes , Consanguinidad , Análisis Mutacional de ADN , Mutación del Sistema de Lectura , Disgenesia Gonadal 46 XY/genética , Heterocigoto , Humanos , Masculino , Modelos Moleculares , Proteínas Mutantes/química , Proteínas Mutantes/genética , Pakistán , Polimorfismo de Nucleótido Simple , Dominios Proteicos , Factor Esteroidogénico 1/química
5.
Plant Biol (Stuttg) ; 17(5): 1005-12, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25732002

RESUMEN

Heavy metals greatly alter plant morphology and architecture, however detailed mechanisms of such changes are not fully explored. Two experiments were conducted to investigate the influence of cadmium (CdCl2 · 2.5H2 O) on some germination, morphological, biochemical and histological characteristics of developing embryonic tissue of maize. In the first experiment, maize seeds were germinated in increasing levels of CdCl2 (200-2000 µm) in sand and measurements were taken of changes in germination and seedling development attributes. Based on these parameters, 1000 µM CdCl2 was chosen for detailed biochemical and histological measurements. In the second experiment, seeds were germinated in Petri dishes and supplied with 0 (control) or 1000 µM CdCl2 (Cd-treated). Radicle, plumule, coleoptile and coleorhiza were measured for biochemical and histological changes. The highest amount of Cd was in the coleorhiza and radicle. Free proline, soluble sugars, anthocyanin, soluble phenolics, ascorbic acid, H2 O2 and MDA were significantly higher in coleorhizae, followed by the coleoptile, radicle and plumule. Although the radicle and coleorhiza were relatively poor targets of Cd than the other tissues, Cd stress reduced cortical cell size and vascular tissues, and deformed xylem and phloem parenchyma in all plant parts. In conclusion, the main reason for reduced germination was the influence of Cd on architecture of the coleorhiza and coleoptile, which was the result of oxidative stress and other physiological changes taking place in these tissues.


Asunto(s)
Cadmio/toxicidad , Zea mays/efectos de los fármacos , Cotiledón/citología , Cotiledón/efectos de los fármacos , Cotiledón/fisiología , Germinación/efectos de los fármacos , Estrés Oxidativo , Plantones/citología , Plantones/efectos de los fármacos , Plantones/fisiología , Semillas/citología , Semillas/efectos de los fármacos , Semillas/fisiología , Zea mays/citología , Zea mays/fisiología
6.
Iran J Vet Res ; 16(1): 94-9, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-27175159

RESUMEN

The present investigation was conducted to study the effects of experimental Clostridium perfringens type D enterotoxaemia in teddy goats. Clinical signs started to appear after 30 min of experimental infection like anorexia, diarrhea, dehydration, frothing and dyspnea. Gross lesions consisted of severe congestion in tissues of varying intensity with enlarged mesenteric lymph nodes while histological examination revealed edema of lungs, kidney, and lymph nodes and to some extent in brain along with hemorrhages in lungs and intestines. Clostridium perfringens type D carrying alpha and epsilon toxin genes were amplified with amplicon size about 247 bp and 665 bp, respectively. Human erythrocytes showed the highest hemolysis, 68%, followed by mice, 57%, against culture supernatants. The percentage of hemolysis was significantly higher at 37°C as compared to 25°C except for rabbit and dog.

7.
Scientifica (Cairo) ; 2012: 649090, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-24278723

RESUMEN

Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous disorder characterized by hyperkeratosis in addition to dry, scaly skin. There are six genes currently known to be associated with the disease. Exome sequencing data for two affected individuals with ichthyosis from two apparently unrelated consanguineous Pakistani families was analysed. Potential candidate mutations were analysed in additional family members to determine if the putative mutation segregated with disease status. A novel mutation (c.G4676T, p.Gly1559Val) in ABCA12 occurred at a highly conserved residue, segregated with disease status in both families, and was not detected in 143 control chromosomes. Genotyping with microsatellite markers demonstrated a partial common haplotype in the two families, and a common founder mutation could not be excluded. Comparison to previously reported cases was consistent with the hypothesis that severe loss of function ABCA12 mutations are associated with Harlequin Ichthyosis and missense mutations are preferentially associated with milder phenotypes. In addition to identifying a possible founder mutation, this paper illustrates how advances in genome sequencing technologies could be utilised to rapidly elucidate the molecular basis of inherited skin diseases which can be caused by mutations in multiple disease genes.

8.
Pharmacogenomics J ; 8(5): 349-56, 2008 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-18663376

RESUMEN

Cytochrome P450 2E1, gene symbol CYP2E1, is one of a family of enzymes with a central role in activating and detoxifying xenobiotics and endogenous compounds. Genetic variation at this gene has been reported in different human populations, and some association studies have reported increased risk for cancers and other diseases. To the best of our knowledge, multi-single-nucleotide polymorphism haplotypes and linkage disequilibrium (LD) have not been systematically studied for CYP2E1 in multiple populations. Haplotypes can greatly increase the power both to identify patterns of genetic variation relevant for gene expression as well as to detect disease-related susceptibility mutations. We present frequency and LD data and analyses for 11 polymorphisms and their haplotypes that we have studied on over 2600 individuals from 50 human population samples representing the major geographical regions of the world. The diverse patterns of haplotype variation found in the different populations we have studied show that ethnicity may be an important variable helping to explain inconsistencies that have been reported by association studies. More studies clearly are needed of the variants we have studied, especially those in the 5' region, such as the variable number of tandem repeats, as well as studies of additional polymorphisms known for this gene to establish evidence relating any systematic differences in gene expression that exist to the haplotypes at this gene.


Asunto(s)
Alelos , Citocromo P-450 CYP2E1/genética , Haplotipos , Desequilibrio de Ligamiento , Evolución Biológica , Flujo Genético , Humanos
9.
Amino Acids ; 31(4): 421-5, 2006 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-16699826

RESUMEN

It has been shown in various studies that increase in serotonergic neurotransmission is associated with increased memory consolidation whereas low brain 5HT impairs memory performance. In the first phase of our study we found that tryptophan (TRP) administration for 6 weeks increased plasma TRP and whole brain TRP, 5HT and 5HIAA levels. Many brain regions are involved in the learning process but particularly the hippocampus is known to have key role in learning and memory. The present study was therefore designed to investigate the effects of TRP loading particularly on hippocampal 5HT metabolism and cognitive performance in rats. TRP-treated rats demonstrated spatial enhancement as evidenced by a significant decrease in time to find the hidden food reward in radial arm maze test (RAM). The important finding of the present study was the greater increase in the 5HT metabolism in hippocampus than in any other brain region of the TRP-treated rats. This increased 5HT metabolism in the hippocampus emphasizes the involvement of this region in memory process.


Asunto(s)
Cognición/efectos de los fármacos , Hipocampo/metabolismo , Receptores de Serotonina/metabolismo , Triptófano/administración & dosificación , Triptófano/metabolismo , Animales , Conducta Animal/efectos de los fármacos , Femenino , Hipocampo/efectos de los fármacos , Aprendizaje por Laberinto/efectos de los fármacos , Memoria/efectos de los fármacos , Ratas , Ratas Wistar , Serotonina/metabolismo , Factores de Tiempo , Triptófano/sangre
10.
J Med Genet ; 43(4): 378-81, 2006 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-16199541

RESUMEN

Semaphorins are a large family of transmembrane proteins. The gene for SEMA4A encodes a transmembrane protein comprising 760 amino acids. To investigate its association with human retinal degeneration, mutation screening of the SEMA4A gene was carried out on 190 unrelated patients suffering from a variety of eye diseases. We report the first observation of the involvement of SEMA4A gene mutations causing retinitis pigmentosa (RP) and cone rod dystrophy (CRD). We screened the DNA of 135 patients with RP, 25 patients with CRD, and 30 with LCA using SSCP and direct DNA sequencing for mutations in the SEMA4A gene. Two mutations, p.D345H and p.F350C, were observed only in affected patients; they were not observed in any of the normal members or the 100 control subjects. Both mutations identified occur in the conserved semaphorin domain. Multiple sequence alignments using Clustal analysis showed that R713Q is a conserved substitution and D345H is a semi-conserved substitution. We conclude that these mutations are a cause of various retinal degenerations.


Asunto(s)
Ceguera/genética , Mutación Missense , Retinitis Pigmentosa/genética , Semaforinas/genética , Ceguera/congénito , Ceguera/diagnóstico , Secuencia Conservada , Análisis Mutacional de ADN , Femenino , Pruebas Genéticas , Humanos , Masculino , Linaje , Retinitis Pigmentosa/diagnóstico , Semaforinas/química
15.
Tissue Antigens ; 59(6): 492-501, 2002 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12445319

RESUMEN

The extreme polymorphism found at some of the loci of the HLA system has made it an invaluable tool for population genetic analyses. In this study the genetic polymorphism of six Pakistani ethnic groups was investigated at the HLA-A, -B, -C, -DRB and DQB1 loci using polymerase chain reaction with sequence specific primers. The groups included in this study are the Baloch, Brahui and Sindhi from the south and the Burusho, Kalash and Pathan from the north of Pakistan. The allele frequencies, three-locus haplotype frequencies for HLA-A, -C, -B and HLA-A, -B, -DRB1 are given. Variation in the allele and haplotype distribution between the six Pakistani ethnic groups was observed. A phylogenetic tree and correspondence analysis based on HLA-A, -B, -C, -DRB1 and -DQB1 allele frequencies revealed the Kalash population to be distinct from the remaining Pakistani populations. The Baloch and Brahui were closely related to one another. The Sindhi were closer to the Pathan and Burusho populations than to the neighboring Baloch and Brahui populations, indicating admixture between the northern and southern populations of Pakistan. A phylogenetic tree and correspondence analysis comparing the Pakistani populations with various other world populations showed that the Pakistani ethnic groups lie within the cluster of Asian Indian populations. The three-locus haplotypes found in the Pakistani populations suggest an influence from Caucasian and Oriental populations.


Asunto(s)
Etnicidad/genética , Antígenos HLA/genética , Variación Genética , Antígenos HLA-A/genética , Antígenos HLA-B/genética , Antígenos HLA-C/genética , Antígenos HLA-DQ/genética , Cadenas beta de HLA-DQ , Antígenos HLA-DR/genética , Haplotipos , Humanos , Pakistán , Filogenia , Polimorfismo Genético
16.
Genet Test ; 6(2): 123-7, 2002.
Artículo en Inglés | MEDLINE | ID: mdl-12215252

RESUMEN

CCR5 is a G-protein-coupled chemokine receptor that is used as a co-factor by macrophage-tropic (M-tropic) isolates of human immunodeficiency virus-1 (HIV-1) to gain entry into host cells. A 32-bp deletion in the CCR5 gene (CCR5-Delta32) leads to the production of an altered gene product that prevents HIV-1 from entering the host cell. This study was carried out to determine prevalence of CCR5-Delta32 allele frequency in a large Pakistani population sample (n = 821) representing 10 ethnic groups. No individual was homozygous for the mutant allele and the frequency of the CCR5-Delta32 allele ranged from 0.62% to 3.57%. The CCR5-Delta32 allele frequency was generally lower in populations from southern Pakistan. The overall frequency of the CCR5-Delta32 allele in Pakistan was 2.31%, which is much lower than that found in European populations and similar to that in the Middle East. This is consistent with the historical records and genetic data that indicate a close genetic affinity among these populations. This study demonstrates that the Pakistani population is highly susceptible to M-tropic isolates of HIV-1 and public health measures need to be enforced with urgency if Pakistan is to avoid an HIV epidemic.


Asunto(s)
Síndrome de Inmunodeficiencia Adquirida/epidemiología , Etnicidad/genética , Frecuencia de los Genes , Predisposición Genética a la Enfermedad/genética , VIH-1/fisiología , Receptores CCR5/genética , Eliminación de Secuencia , Europa (Continente)/etnología , Humanos , Medio Oriente/etnología , Pakistán
18.
Invest Ophthalmol Vis Sci ; 42(10): 2225-8, 2001 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-11527934

RESUMEN

PURPOSE: To map the disease locus in a six-generation, consanguineous Pakistani family affected by nonsyndromic autosomal recessive persistent hyperplastic primary vitreous (arPHPV). All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and a retrolenticular white mass behind the lens. METHODS: Genomic DNA from family members was typed for alleles at more than 400 known polymorphic genetic markers, by polymerase chain reaction. Alleles were assigned to individuals, which allowed calculation of lod scores. RESULTS: A maximum two-point lod score of 4.07 was obtained with marker D10S1225 with no recombination. Two recombinations with marker D10S208 and D10S537 localized the disease within a region of approximately 30 centimorgans (cM). However, homozygosity across the region refined the arPHPV locus to 13 cM. CONCLUSIONS: Linkage analysis shows localization of nonsyndromic arPHPV to chromosome10q11-q21.


Asunto(s)
Catarata/genética , Mapeo Cromosómico , Cromosomas Humanos Par 10/genética , Opacidad de la Córnea/genética , Anomalías del Ojo/genética , Microftalmía/genética , Cuerpo Vítreo/anomalías , Adolescente , Adulto , Segmento Anterior del Ojo/anomalías , Niño , Preescolar , Consanguinidad , ADN/análisis , Femenino , Genes Recesivos , Ligamiento Genético , Humanos , Hiperplasia , Escala de Lod , Masculino , Repeticiones de Microsatélite , Linaje , Reacción en Cadena de la Polimerasa , Cuerpo Vítreo/patología
19.
Invest Ophthalmol Vis Sci ; 42(7): 1436-8, 2001 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-11381043

RESUMEN

PURPOSE: To map the disease locus in a six-generation, consanguineous Pakistani family with autosomal recessive retinitis pigmentosa (arRP). All affected individuals had pigmentary retinopathy associated with symptoms of night blindness and the loss of peripheral visual fields by the age of 20 years, loss of central vision between the ages of 25 and 30 years, and complete blindness between the ages of 40 and 50 years. METHODS: Genomic DNA from family members was typed for alleles at known polymorphic genetic markers using polymerase chain reaction. Alleles were assigned to individuals, which allowed calculation of LOD scores using the programs Cyrillic (http://www.cyrillicsoftware.com) and MLINK (Cherwell Scientific Publishing LTD:, Oxford, UK). The genes for membrane glycoprotein (M6a) and chloride channel 3 (CLCN3) were analyzed by direct sequencing for mutations. RESULTS: A new locus for arRP (RP29) has been mapped to chromosome 4q32-q34. A maximum two-point LOD score of 3.76 was obtained for the marker D4S415, with no recombination. Two recombination events in the pedigree positioned this locus to a region flanked by markers D4S621 and D4S2417. A putative region of homozygosity by descent was observed between the loci D4S3035 and D4S2417, giving a probable disease interval of 4.6 cM. Mutation screening of two candidate genes, M6a and CLCN3, revealed no disease-associated mutations. CONCLUSIONS: The results suggest that the arRP phenotype maps to a new locus and is due to a mutated gene within the 4q32-q34 chromosomal region.


Asunto(s)
Mapeo Cromosómico , Cromosomas Humanos Par 4/genética , Retinitis Pigmentosa/genética , Adulto , Consanguinidad , Análisis Mutacional de ADN , Femenino , Genes Recesivos , Humanos , Escala de Lod , Masculino , Repeticiones de Microsatélite , Persona de Mediana Edad , Pakistán/epidemiología , Linaje , Retinitis Pigmentosa/etnología , Campos Visuales
20.
Opt Lett ; 26(16): 1224-6, 2001 Aug 15.
Artículo en Inglés | MEDLINE | ID: mdl-18049567

RESUMEN

A liquid-level sensor based on the refractive-index sensitivity of long-period fiber-optic gratings is proposed and demonstrated. The form of the transmission spectrum of the long-period grating is dependent on the fraction of the length of the long-period grating that is surrounded by the liquid. The sensor shows a large linear range, with sensitivity of 4.8% change in transmission per millimeter, for a long-period grating with a length of 40 mm and a periodicity of 400mu;m .

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