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1.
Aesthetic Plast Surg ; 48(6): 1084-1093, 2024 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-37932507

RESUMEN

BACKGROUND: Correction of the crooked nose, especially the perpendicular plate of the ethmoid bone, has the potential to cause skull base injury. At present, the safe and effective method for perpendicular plate resection has not been clearly defined through biomechanics. METHOD: CT scan data of 48 patients with crooked nose and deviated nasal septum were divided into C-type, angular deformity-type, and S-type based on the morphology of the 3D model. Different types of finite element models of the nasal bony septum and skull base were established. The osteotomy depth, angle, and force mode of the PPE resection were simulated by assembling different working conditions for the models. The von Mises stress of the anterior cranial fossa was observed. RESULTS: When the osteotomy line length was 0.5 cm, the angle was at 30° to the Frankfurt plane, and 50 N·mm torque was applied, the von Mises stress of the skull base was minimal in the four models, showing 0.049 MPa (C-type), 0.082 MPa (S-type), 0.128 MPa (angular deformity-type), and 0.021 MPa (control model). The maximum von Mises stress values were found at the skull base when the osteotomy line was 1.5 cm, the angle was 50°, and the force was 10 N along the X-axis, showing 0.349 MPa (C-type), 0.698 MPa (S-type), 0.451 MPa (angular deformity-type), and 0.149 MPa (control model). CONCLUSION: The use of smaller resection angle with the Frankfurt plane, conservative resection depth, and torsion force can better reduce the stress value at the skull base and reduce the risk of basicranial fracture. It is a safe and effective technique for perpendicular plate resection of the ethmoid bone in the correction of crooked nose. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .


Asunto(s)
Nariz , Rinoplastia , Humanos , Nariz/cirugía , Rinoplastia/métodos , Análisis de Elementos Finitos , Hueso Etmoides/diagnóstico por imagen , Hueso Etmoides/cirugía , Tabique Nasal/diagnóstico por imagen , Tabique Nasal/cirugía , Tomografía Computarizada por Rayos X
2.
J Craniofac Surg ; 34(8): 2417-2421, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37682000

RESUMEN

BACKGROUND: A crooked nose is an external nose deformity predominantly caused by congenital aplasia or acquired secondary to trauma or surgery, often accompanied by a deviated nasal septum. Patients with crooked nose have dual needs to improve both esthetic and functional problems. METHODS: The clinical and photographic information of 48 patients diagnosed with a crooked nose and nasal septum deviation treated from January 2018 to January 2022 was acquired. The morphology and functional effects were investigated by evaluating the general condition of the operation, measuring the esthetic indexes of the nose, and subjectively scoring. RESULTS: For both morphology and function, endoscopy-assisted one-stage correction showed positive results in this study. The external nose deviation distance postoperatively measured 1.28 (0.85, 1.97) mm, which significantly decreased from the preoperative value of 3.96 (3.31, 5.29) mm. The scores of doctors and irrelevant medical students on nose morphology increased significantly from 4.75±1.88 and 3.84±0.76 to 6.48±1.21 and 7.21±0.67, respectively. The rhinoplasty outcome evaluation score and the "nasal obstruction symptom evaluation "score of patients were both significantly improved ( t = -7.508 and t =6.310, respectively, P < 0.001). CONCLUSION: Endoscope-assisted one-stage correction of the crooked nose can restore nasal morphology, improve the symptoms of nasal obstruction, and achieve patient satisfaction. It is a minimally invasive, safe, effective, and fast recovery approach for patients who need to solve both esthetic and functional problems.


Asunto(s)
Obstrucción Nasal , Deformidades Adquiridas Nasales , Rinoplastia , Humanos , Tabique Nasal/cirugía , Tabique Nasal/anomalías , Obstrucción Nasal/cirugía , Deformidades Adquiridas Nasales/cirugía , Deformidades Adquiridas Nasales/complicaciones , Estética Dental , Nariz/cirugía , Nariz/anomalías , Rinoplastia/métodos , Resultado del Tratamiento
3.
Fa Yi Xue Za Zhi ; 39(6): 549-556, 2023 Dec 25.
Artículo en Inglés, Zh | MEDLINE | ID: mdl-38228473

RESUMEN

OBJECTIVES: To study the changes of protein levels in peripheral blood after it dried. METHODS: The proteins from whole blood and bloodstains were detected by liquid chromatography-tandem mass spectrometry (LC-MS/MS) and normalized by the label-free quantification (LFQ) method. The differential proteins were analyzed by using R 4.2.1 software, limma and edgeR package. The analysis of biological function, signaling pathway and subcellular localization for the differential proteins was then performed. RESULTS: A total of 623 and 596 proteins were detected in whole blood and bloodstains, respectively, of which 31 were statistically significant in the quantitative results, including 10 up-regulated and 21 down-regulated proteins in bloodstains. CONCLUSIONS: The protein abundances in whole blood and bloodstains are highly correlated, and the variation of protein abundances may be related to the changes of endogenous and structural proteins in cells. The application of proteomics technology can assist the screening and identification of protein biomarkers, thereby introducing new biomarkers for forensic research.


Asunto(s)
Manchas de Sangre , Espectrometría de Masas en Tándem , Cromatografía Liquida/métodos , Espectrometría de Masas en Tándem/métodos , Proteómica/métodos , Biomarcadores
4.
Int Wound J ; 17(2): 317-325, 2020 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-31850679

RESUMEN

Human skin fibroblast (HSF) cells were irradiated with different energy lasers to detect cell proliferation, apoptosis, and expression of microRNA-206 and protein, and to further summarise the therapeutic effect of laser on scar cells. Human scar cell line HSF cells were cultured in three groups. The control group was not irradiated by laser, the low-energy group was irradiated by 10 J/cm2 laser, and the high-energy group was irradiated by 20 J/cm2 laser. After irradiation, HSF cells were cultured for 20 hours. Cell proliferation was detected by MTT assay. Cell cycle and apoptosis were detected by flow cytometry. Transwell migration assay was used to detect cell migratory ability. Reverse transcription polymerase chain reaction (RT-PCR) was used to detect miR-206 and mTOR gene levels. The levels of MMP-9, Bax, Bcl-2, cyclin D1, and mTOR signalling pathway proteins were detected by Western blotting assays. The results showed that after laser irradiation, the proliferation of cells decreased, and the difference between the control group and the experimental group was significant (P < .05). The higher the energy was, the greater the upregulation of apoptosis was. Apoptosis and cell migration increased (P < .05). The expressions of microRNA-206, MMP-9, and Bax were upregulated, while the expressions of mTOR, Bcl-2, and cyclin D1 were downregulated. To sum up, laser irradiation can significantly inhibit the proliferation of HSF cells, affect cell cycle, and increase cell apoptosis and migratory ability.


Asunto(s)
Apoptosis/efectos de la radiación , Cicatriz/radioterapia , Fibroblastos/patología , Regulación de la Expresión Génica , Terapia por Luz de Baja Intensidad/métodos , MicroARNs/genética , Movimiento Celular/efectos de la radiación , Proliferación Celular/efectos de la radiación , Células Cultivadas , Cicatriz/genética , Cicatriz/patología , Fibroblastos/metabolismo , Fibroblastos/efectos de la radiación , Humanos , MicroARNs/biosíntesis , Transducción de Señal
5.
Surg Radiol Anat ; 39(3): 271-279, 2017 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-27289229

RESUMEN

PURPOSE: To clearly delineate the anatomy of the musculus longus capitis, determine its clinical applications for reconstruction surgery, and provide a safer surgical method of developing the longus capitis muscle flap. METHODS: Anatomical investigations were performed in seven adult cadavers (five cadavers for gross anatomy and two for transparent specimen preparation) with respect to the location, morphology, arterial supply, and innervation of the musculus longus capitis, as well as its spatial relationship with the cervical sympathetic trunk, superior cervical ganglion, carotid sheath, and other surrounding structures. RESULTS: The musculus longus capitis is located anterior to the C1-6 vertebrae, segmentally supplied by branches of the ascending cervical artery, innervated by the C1-5 nerve, and spatially close to the cervical sympathetic trunk, superior cervical ganglion, and carotid sheath. These anatomic findings indicate that the development of a cranial or caudal pedicled longus capitis muscle flap is feasible. CONCLUSION: The musculus longus capitis can be developed into a cranial or caudal pedicled flap for repair of head and neck defects with negligible morbidity of the donor site.


Asunto(s)
Plexo Cervical/anatomía & histología , Músculos del Cuello/anatomía & histología , Procedimientos de Cirugía Plástica/métodos , Ganglio Cervical Superior/anatomía & histología , Colgajos Quirúrgicos/cirugía , Cadáver , Estudios de Factibilidad , Femenino , Cabeza/cirugía , Humanos , Masculino , Persona de Mediana Edad , Cuello/cirugía , Músculos del Cuello/irrigación sanguínea , Músculos del Cuello/inervación
6.
Fa Yi Xue Za Zhi ; 31(4): 280-3, 2015 Aug.
Artículo en Zh | MEDLINE | ID: mdl-26665881

RESUMEN

OBJECTIVE: To investigate the genetic data of 21 autosomal STR included in Goldeneye™ DNA ID 22NC Kit in Chinese Han nationality and to evaluate the forensic application. METHODS: By detected 500 unrelated healthy individuals in Chinese Han nationality of East China with Goldeneye™ DNA ID 22NC Kit, allele frequencies, population genetics parameters and linkage disequilibrium information of the 21 autosomal STR were statistically analyzed. RESULTS: In the 21 autosomal STR, no deviations from Hardy-Weinberg equilibrium were detected and all loci were independent form each other. DP values of 21 autosomal STR were all above 0.85, and the combined discrimination power was 1-3.616 5 x 10(-26). Combined mean exclusion chance of this system in duo cases was 1-2.786 81 x10(-6), in trio cases was 1-8.545 82 x 10(-1). CONCLUSION: Twenty-one autosomal STR included in Goldeneye™ DNA ID 22NC Kit are highly polymorphic in the Han nationality. Combined with Goldeneye™ DNA ID 20A Kit, the kit can satisfy the needs for full-sibling testing and facilitate the solution of this kind of case tools.


Asunto(s)
Pueblo Asiatico/genética , Genética Forense/métodos , Sitios Genéticos/genética , Polimorfismo Genético , Alelos , Pueblo Asiatico/etnología , China , Etnicidad/genética , Frecuencia de los Genes , Marcadores Genéticos/genética , Genética de Población , Genotipo , Humanos , Juego de Reactivos para Diagnóstico
7.
J Craniofac Surg ; 25(6): 1939-42, 2014 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-25329850

RESUMEN

OBJECTIVE: To propose landmarks and a new coordinate system to aid three-dimensional cephalometric analysis of adolescent cleft lip and palate (CLP) using computed tomography (CT) imaging. METHODS: Sixty-four-row CT images obtained from 52 adolescent patients were retrospectively analyzed with the MIMICS program (MIMICS 10.02; Materialise Technologies, Leuven, Belgium) to determine intrarater reliability of new landmarks for three-dimensional cephalometric analysis before surgery. RESULTS: Five points were located on each image including the midpoint between both uppermost external points of the external auditory meatus (EAM), the center of the sella turcica (sella, S), the most anterior point on the nasofrontal suture in the midline (nasion, N), and the right and left lowest points of the lower edge of the orbitale (r/l orbitale, r/l Or). The horizontal reference plane was then determined using EAM and bilateral Or. The sagittal reference plane was defined perpendicular to the horizontal plane, passing through N and S. The coronal reference plane included the EAM landmark and was perpendicular to the sagittal and horizontal planes. All 5 points had high intrarater reliability and proved easy to use in constructing the new coordinate system. The horizontal, sagittal, and coronal reference planes formed by these respective points improved the ease of performing three-dimensional cephalometric analysis of CLP adolescents with CT imaging. CONCLUSIONS: Our 5 landmarks provided reliable CT-guided three-dimensional cephalometric analysis of CLP, allowing for accurate quantitative assessment in adolescents before orthognathic surgery.


Asunto(s)
Cefalometría/métodos , Labio Leporino/diagnóstico por imagen , Fisura del Paladar/diagnóstico por imagen , Imagenología Tridimensional/métodos , Tomografía Computarizada por Rayos X/métodos , Adolescente , Puntos Anatómicos de Referencia/diagnóstico por imagen , Cefalometría/estadística & datos numéricos , Conducto Auditivo Externo/diagnóstico por imagen , Femenino , Hueso Frontal/diagnóstico por imagen , Humanos , Imagenología Tridimensional/estadística & datos numéricos , Masculino , Hueso Nasal/diagnóstico por imagen , Variaciones Dependientes del Observador , Órbita/diagnóstico por imagen , Reproducibilidad de los Resultados , Estudios Retrospectivos , Silla Turca/diagnóstico por imagen , Tomografía Computarizada por Rayos X/estadística & datos numéricos
8.
Fa Yi Xue Za Zhi ; 30(5): 332-6, 2014 Oct.
Artículo en Zh | MEDLINE | ID: mdl-25735067

RESUMEN

OBJECTIVE: To establish miniSTR fluorescent detection system with all detected fragments below 150 bp and to enhance the efficiency of detecting the degraded DNA samples. METHODS: All candidate primers were designed by Primer Premier 5 and screened by FastPCR 6.0. The miniSTR multiplex system was established by these selected loci labeling by four fluorescent dye. The parameters of PCR and primer concentrations were subsequently optimized. The electrophoresis was fulfilled under POP4 on 3100-Avant and the typing data was validated by standard DNA 9947A and 007. Fresh blood samples and difficult degraded DNA samples were tested to evaluate the usefulness of the system. RESULTS: All amplicons in the established miniSTR fluorescent detection system (D12ATA63, D2S1776, D1GATA113, D4S2408, D17S974, D20S482, D3S3053, Amelogenin, D6S474, D9S1122) were less than 150bp. The profile showed a balanced peak height without extra stutter by optimal protocol. Allele frequencies showed no deviations from Hardy-Weinberg equilibrium. The system showed accumulated probability of discrimination 0.999 999 983 and accumulated triplet excluding probability of paternity 0.996 8. It could detect corrupt muscle tissue, low copy number DNA samples and human tissues fixed by 40% formaldehyde solution for 12 days. CONCLUSION: The miniSTR fluorescent detection system could be solely used for personal identification of degraded DNA samples or complementally used for paternity tests. And the system could enhance the ability of detecting the trace and degraded DNA.


Asunto(s)
Cartilla de ADN/genética , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Reacción en Cadena de la Polimerasa/métodos , Análisis de Secuencia de ADN/métodos , ADN/sangre , ADN/química , Dermatoglifia del ADN , Electroforesis en Gel de Agar , Genética Forense , Genética de Población , Humanos , Estándares de Referencia
9.
Fa Yi Xue Za Zhi ; 30(6): 446-51, 455, 2014 Dec.
Artículo en Zh | MEDLINE | ID: mdl-25816577

RESUMEN

OBJECTIVE: To perform the validation and analysis of forensic parameters of Goldeneye DNA ID 26Y system. METHODS: Based on the validation rules of Scientific Working Group on DNA Analysis Methods (SWGDAM), the kit was assessed from several parts, as test of PCR system, reproducibility, accuracy, and sensitivity, etc. And Y-STR loci of 517 unrelated healthy individuals from Eastern China were genotypes by this kit. The distribution and frequency of haplotype were calculated and forensic parameters of the kit were assessed. RESULTS: The complete profiles can be obtained even when the PCR reaction volume with 6.25 microL. And correct profile was obtained with DNA down to 125 pg. No reproducible peaks were detected with the DNA of common animals and microorganism with the kit. For the male-male mixture testing, average 70% of the minor alleles were obtained when the ratios of 1:19 and 19:1. For the male-female mixture testing, results showed that the sensitivity of the kit was no compromised with the addition of female samples. CONCLUSION: The validation studies demonstrated that Goldeneye DNA ID 26Y system has good sensitivity and specificity, and suitable for mixture testing. The polymorphism of 26 Y-STR loci included in this kit are good for forensic application.


Asunto(s)
Pueblo Asiatico/genética , Cromosomas Humanos Y , Dermatoglifia del ADN/normas , Genética Forense/métodos , Alelos , Animales , China , ADN , Femenino , Genotipo , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo Genético , Reproducibilidad de los Resultados , Sensibilidad y Especificidad
10.
J Cosmet Dermatol ; 23(2): 630-638, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-37846506

RESUMEN

BACKGROUND: The application of nasolabial perforator flap for nasal reconstruction has been reported previously with satisfactory outcomes, but the outcomes and risk factors of postoperative adverse events have been unclear to plastic surgeons. AIMS: To statistically analyze the effectiveness of the nasolabial perforator flap in nasal reconstruction and the risk factor of postoperative complications and re-operation. PATIENTS/METHODS: This retrospective study evaluated 58 Chinese patients who underwent nasal reconstruction with the nasolabial perforator flap from 2009 to 2021. The esthetic and blood supply outcomes were measured by plastic surgeons on a 5-point Likert scale. Binary logistic regression was used to determine the risk factors associated with postoperative complications and re-operation. RESULTS: The mean age of the cohort was 66.4 ± 2.0 years. The defect size ranged from 6.5 × 5.5 mm2 to 40 × 70 mm2 , and 48.3% of defects covered more than one nasal subunit. Venous congestion occurred in 4.9% of flaps, and the immediate overall postoperative score was 7.72/10. More than one nasal subunit of involvement was the risk factor associated with re-operation (p = 0.004), but no risk factor was associated with complications. CONCLUSIONS: The nasolabial perforator flap is reliable for nasal reconstruction with good esthetic outcomes and fewer complications. However, a large number of involved subunits may lead to multiple surgeries for flap trimming in easterners.


Asunto(s)
Colgajo Perforante , Procedimientos de Cirugía Plástica , Humanos , Persona de Mediana Edad , Anciano , Colgajo Perforante/efectos adversos , Colgajo Perforante/cirugía , Procedimientos de Cirugía Plástica/efectos adversos , Estudios Retrospectivos , Nariz/cirugía , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología
11.
Fa Yi Xue Za Zhi ; 28(5): 351-4, 2012 Oct.
Artículo en Zh | MEDLINE | ID: mdl-23213785

RESUMEN

OBJECTIVE: To investigate the genetic data of 12 autosomal STR loci included in Investigator HDplex kit and to evaluate its forensic application in Han nationality of Eastern China. METHODS: A total of 484 unrelated healthy individuals in Han nationality of Eastern China were investigated with Investigator HDplex kit. Allele frequencies, population genetics parameters and linkage disequilibrium information of the 12 autosomal STR loci were statistically analyzed. RESULTS: No deviations from Hardy-Weinberg equilibrium were detected and all loci were independent form each other within the studied 484 unrelated healthy individuals. DP values of the 12 autosomal STR loci were all above 0.8, and CDP was 0.999 999 999 92. The cumulative probability of paternity exclusion in duo and in trio were 0.999 82 and 0.999 998 6, respectively. CONCLUSION: Investigator HDplex kit with 12 highly polymorphic STR loci in Han nationality of Eastern China could be used effectively for forensic DNA genotyping.


Asunto(s)
Pueblo Asiatico/genética , Genética Forense/métodos , Sitios Genéticos/genética , Genética de Población , Alelos , Pueblo Asiatico/etnología , China , Etnicidad/genética , Frecuencia de los Genes , Marcadores Genéticos/genética , Genotipo , Humanos , Mutación , Polimorfismo Genético , Juego de Reactivos para Diagnóstico
12.
Fa Yi Xue Za Zhi ; 28(2): 104-8, 2012 Apr.
Artículo en Zh | MEDLINE | ID: mdl-22619804

RESUMEN

OBJECTIVE: To derive the formulae for likelihood ratio calculation in discriminating full sibling from half sibling with single-parent participation or without parent participation. METHODS: Null hypothesis and alternative hypothesis were established for discriminating full sibling from half sibling in two circumstances: two children with single-parent and without parent participation. Conditional probabilities of the genetic evidentiary under null and alternative hypotheses were calculated according to the Bayesian theory. The likelihood ratios were established with the conditional probability under alternative hypothesis division that under null hypothesis, followed with simplification. All the formulae were validated in a real case. RESULTS: While mother or fathers' genetic information available in differentiating full sibling from half sibling, 14 different genotype combinations could be shared by the two detected children at a given locus and the likelihood ratio could be calculated with 5 different formulae respectively. While both parents' genetic information unavailable, 11 different genotype combinations could be shared and the likelihood ratio could be calculated with 7 different formulae respectively. It was validated in a real case that the power of the likelihood ratio method developed for discriminating full sibling from half sibling with single-parent participation was higher than that of the ratio of full sibling index over half sibling index. CONCLUSION: The formulae of likelihood ratio developed are useful for discriminating full sibling from half sibling with single-parent participation or without parent participation.


Asunto(s)
Algoritmos , Cromosomas Humanos X/genética , Funciones de Verosimilitud , Hermanos , Secuencias Repetidas en Tándem/genética , Alelos , Teorema de Bayes , Niño , Femenino , Genética Forense , Genotipo , Humanos , Modelos Genéticos , Padres
13.
Fa Yi Xue Za Zhi ; 27(5): 330-3, 2011 Oct.
Artículo en Zh | MEDLINE | ID: mdl-22259857

RESUMEN

OBJECTIVE: To establish universal algorithms for commonly used kinship indices between two individuals. METHODS: Based on the formulas of paternity index in duos(PID), full sibling index(FSI), half sibling index (HSI), avuncular index (AI), grandparental index (GI) and first cousin index (CI1st) deduced from ITO method, the common factors, 1 plus reciprocal of the frequency of the allele with identity by state between the two individuals, shared in these formulas were abstracted with induction method, following with reconstruction of these formulas with the common factor and the coefficient of relationship (r). RESULTS: A universal algorithm for PI(D), HSI, AI, GI and CI1st, was developed with the common factor and r value according to the heterozygosity of the two individuals. Meanwhile, a group of two formulas for FSI calculation was also established according to the individuals' heterozygosity. CONCLUSION: The universal algorithms for the 6 types of kinship indices are practical in corresponding kinship determination and the batch arithmetic operation with the universal algorithms can be easily programmed.


Asunto(s)
Algoritmos , Modelos Genéticos , Paternidad , Alelos , Femenino , Genética Forense , Frecuencia de los Genes , Genotipo , Heterocigoto , Humanos , Masculino , Linaje , Hermanos
14.
Fa Yi Xue Za Zhi ; 26(5): 349-52, 2010 Oct.
Artículo en Zh | MEDLINE | ID: mdl-21287738

RESUMEN

OBJECTIVE: To develop a STR analysis method for analyzing DNA from stained tissue sections and to evaluate the capability of this protocol in forensic application. METHODS: Eight kinds of HE stained human tissue, for example heart, liver, lung and intestine, were collected from two autopsy cases. The genomic DNA from those tissues was extracted using a QIAgen kit. DNA quantitation was performed using the TaqMan PCR method. The concentration of DNA isolated was determined based on Ct values. Internal positive controls (IPC) were used to monitor inhibitors. DNA amplifications were performed using Identifiler PCR Amplification kit. PCR products were analyzed on 3100-Avant Genetic Analyzer. RESULTS: The concentrations of DNA obtained from all samples were greater than 1 ng/microL. PCR inhibition was not observed. However, DNA degradation, potentially due to the effect of residual formalin fixative, was observed among tissue samples stored for long periods of time. CONCLUSION: Sufficient amounts of DNA were extracted from HE stained tissue sections. STR profiles were successfully generated. The number of genotype alleles detected decreased as sample storage time increased.


Asunto(s)
Dermatoglifia del ADN/métodos , ADN/análisis , Genética Forense/métodos , Secuencias Repetidas en Tándem , Alelos , Cadáver , ADN/genética , Femenino , Genotipo , Humanos , Hígado , Pulmón , Adhesión en Parafina , Reacción en Cadena de la Polimerasa , Manejo de Especímenes/métodos , Coloración y Etiquetado
15.
Fa Yi Xue Za Zhi ; 26(6): 446-8, 2010 Dec.
Artículo en Zh | MEDLINE | ID: mdl-21425609

RESUMEN

OBJECTIVE: To explore the method for DNA typing in formalin-fixed tissue by detecting SNP markers on X chromosome. METHODS: Genomic DNA was prepared from formalin-fixed tissue. In the event that typing using Sinofiler and MiniFiler kits had failed, 51 SNPs were amplified with multiplex PCR and typed with matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS). RESULTS Full profiles of X-SNP loci were obtained from the formalin-fixed tissue, while the STR and miniSTR genotyping failed. CONCLUSION: SNP genotyping technique can be used to obtain more information for formalin fixed tissues.


Asunto(s)
Cromosomas Humanos X , ADN/genética , Reacción en Cadena de la Polimerasa Multiplex , Polimorfismo de Nucleótido Simple , Fijación del Tejido/métodos , ADN/análisis , ADN/aislamiento & purificación , Cartilla de ADN , Femenino , Genética Forense , Formaldehído , Genotipo , Humanos , Intestinos , Adhesión en Parafina , Sensibilidad y Especificidad , Espectrometría de Masa por Láser de Matriz Asistida de Ionización Desorción
16.
Fa Yi Xue Za Zhi ; 25(2): 115-7, 122, 2009 Apr.
Artículo en Zh | MEDLINE | ID: mdl-19537251

RESUMEN

OBJECTIVE: To validate the genotype of 12 STR loci by sequencing method. METHODS: According to the special sequence of 12 STR loci (CSF1PO, FGA, TH01, TPOX, VWA, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51 and D21S11), the relative PCR primers were designed. PCR products of control DNA (9947A) and STR mutation samples were sequenced. RESULTS: The sequencing results of both the control DNA (9947A) and STR mutation samples were consistent with their genotyping results. CONCLUSION: The sequencing method developed are accurate and sensitive, can be used for the validation of STR genotyping results.


Asunto(s)
Genética Forense , Genotipo , Mutación , Análisis de Secuencia de ADN/métodos , Secuencias Repetidas en Tándem/genética , Alelos , Secuencia de Bases , Humanos , Datos de Secuencia Molecular , Paternidad , Reacción en Cadena de la Polimerasa
17.
Fa Yi Xue Za Zhi ; 25(5): 337-40, 344, 2009 Oct.
Artículo en Zh | MEDLINE | ID: mdl-20000040

RESUMEN

OBJECTIVE: To assess the influential factors of STR genotyping in 10% unbuffered formalin fixed paraffin embedded samples. METHODS: Eight kinds of autopsy samples including heart, brain, liver, spleen, kidney, lung, stomach and intestine tissue from 2 corpse were fixed with 10% unbuffered formalin and embedded with paraffin according to the routine procedure from which the DNA were extracted with three different methods (QIAGEN, IQ and Chelex). STR profile were analyzed with AmpFlSTR Identifiler Kit and capillary electrophoresis on genetic analyzer 3100-Avant. STR profiles of 56 archival paraffin embedded samples from 15 cases were also analyzed with methods as mentioned. These archival samples, including heart, liver, lung and intestine tissue, had been preserved for 1 to 5 years in ambient temperature. Effectiveness of STR genotyping was assessed with the recalling ration of the 15 STR loci composing of the Identifiler Kit. RESULTS: Significant difference of the recalling ration was statistically revealed among the different types of paraffin embedded sample with same preserving period. Moreover, the STR recalling ration was continuously lowering with the prolongation of preserving period in all of the samples. The linear relationship between the STR recalling ratio and the preserving period was showed in lung and heart sample. The STR recalling ration in lung sample was higher than that in the other types of paraffin embedded sample. CONCLUSION: Preserving period, tissue type, extracting method of DNA and the PCR template concentration were the most important influential factors for successfully STR genotyping paraffin embedded samples, which fixed with unbuffered formalin for the same time.


Asunto(s)
Dermatoglifia del ADN/métodos , ADN/aislamiento & purificación , Genética Forense/métodos , Adhesión en Parafina , Secuencias Repetidas en Tándem , Formaldehído/química , Humanos , Hígado , Pulmón , Miocardio , Reacción en Cadena de la Polimerasa , Manejo de Especímenes/métodos , Factores de Tiempo , Fijación del Tejido
18.
Fa Yi Xue Za Zhi ; 24(3): 214-20, 2008 Jun.
Artículo en Zh | MEDLINE | ID: mdl-18709858

RESUMEN

Since the foundation of FBI laboratory's Combined DNA Index System (CODIS) a decade ago, the 13 CODIS STR loci of the system as well as the recently developed Penta D, Penta E, D2S1338 and D19S433 loci have been widely used by kinship testing laboratories worldwide and have played an important role in the field of Kinship Testing and in construction of criminal database. This article systemically analyzed the characteristics of STR loci information and its genomic information analyzed through search of a variety of database including Webof Knowledge, Elsevier and Internet resources. The up-to-date application of the commonly used STR loci in recent years is also reviewed.


Asunto(s)
Familia , Genética Forense/métodos , Repeticiones de Microsatélite/genética , Paternidad , Polimorfismo Genético/genética , Humanos
19.
Fa Yi Xue Za Zhi ; 23(4): 290-1, 294, 2007 Aug.
Artículo en Zh | MEDLINE | ID: mdl-17896523

RESUMEN

OBJECTIVE: To explore and analyze the mutations of 15 Short Tandem Repeat (STR) loci using Identifiler system in paternity identification. METHODS: 2712 cases of paternity testing were carried out using Identifiler PCR Amplification Kit. RESULTS: Of the 2362 paternity testing cases, mutations of single locus were observed in 51 cases. The mutation loci included D8S1179, D21S11, D7S820, CSF1PO, D3S1358, D13S317, D16S539, D2S1338, D19S433, vWA, D18S51, D5S818 and FGA, with the D21S11 locus having a highest mutation rate (0.369%). Thirty-six of the STR mutations were from paternal source, 7 from maternal source, and the rest (9) were undeterminable. The mutation rates at D21S11 were highest (0.369%). CONCLUSION: Mutations of STR loci are relatively common in human genome. Therefore, retesting of additional relatively stable STR loci with lower mutation rates is necessary when one or two loci exclusions are encountered in paternity testing.


Asunto(s)
Frecuencia de los Genes , Genética de Población , Mutación , Paternidad , Secuencias Repetidas en Tándem/genética , Alelos , Dermatoglifia del ADN/métodos , Análisis Mutacional de ADN/métodos , Medicina Legal/métodos , Humanos , Reacción en Cadena de la Polimerasa/métodos
20.
Fa Yi Xue Za Zhi ; 23(5): 345-6, 2007 Oct.
Artículo en Zh | MEDLINE | ID: mdl-18175572

RESUMEN

OBJECTIVE: The aim was to investigate the polymorphisms of D6S1043 and D12S391 loci among Han population and evaluate their values in paternity testing. MERTHODS: By using fluorescence dye-labeled primers and capillary electrophoresis, the allele frequencies of the two STR loci among 192 unrelated individuals were investigated. RESULTS: Twelve alleles were observed in both D6S1043 and D12S391 loci. The ranges of allele frequencies were from 0.0026 to 0.1719 and from 0.0026 to 0.2292, respectively. The discrimination power of D6S1043 and D12S391 were 0.9656 and 0.9510. The Average exclusion probability in paternity testing for duos were 0.573 and 0.510. The Average exclusion probability in paternity testing for trios were 0.731 and 0.679, respectively. The genotypes frequencies met Hardy-Weinberg equilibrium expectation. CONCLUSION: The results show that D6S1043 and D12S391 have high values in forensic paternity testing.


Asunto(s)
Dermatoglifia del ADN/métodos , Frecuencia de los Genes , Paternidad , Secuencias Repetidas en Tándem/genética , Alelos , China/etnología , Electroforesis Capilar , Medicina Legal/métodos , Genética de Población , Humanos , Probabilidad
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