Histologic Analysis of Gonadal Tissue in Patients with Ullrich-Turner Syndrome and Derivative Y Chromosomes

2005 ◽  
Vol 8 (2) ◽  
pp. 197-203 ◽  
Author(s):  
L.-C. Horn ◽  
A. Limbach ◽  
W. Hoepffner ◽  
R.B. Tröbs ◽  
E. Keller ◽  
...  
Keyword(s):  
At Risk ◽  
Polymerase Chain Reaction ◽  
Turner Syndrome ◽  
Molecular Genetic ◽  
Germ Cell Tumors ◽  
Molecular Genetic Analysis ◽  
Chain Reaction ◽  
Additional Tool ◽  
Polymerase Chain ◽  
Chromosomal Sequences

To identify patients who had Ullrich-Turner syndrome (UTS) and were at risk for gonadoblastoma or associated germ cell tumors, molecular genetic analysis was carried out to detect Y chromosomal sequences. From peripheral blood samples of 5 patients who had cytogenetically confirmed UTS, genomic DNA was extracted and screened for Y chromosomal sequences by polymerase chain reaction. The morphology of the gonadal tissues was compared with results from polymerase chain reaction. Three phenotypic females showed UTS mosaicism with normal X chromosome accompanied by Y chromosomal material, and 2 patients showed marker chromosomes. Molecular analysis represented loci PABY, SRY, ZFY, TSPY, DYZ3, DYZ1 DXYS, 19Y, DYS-273, DYS-148, DYS218, DYS224, and DYZ1. Three patients showed gonadal tumors (1 with unilateral gonadoblastoma, 1 with unilateral dysgerminoma, and 1 patient had both tumors in 1 gonad). Molecular genetic screening for Y chromosomal sequences may be useful as an additional tool for the identification of patients at risk for a gonadal tumor. Careful, complete processing, including step sectioning, of the gonadectomy specimens to detect small lesions is recommended.

Central neurocytoma: morphological, flow cytometric, polymerase chain reaction, fluorescence in situ hybridization, and karyotypic analyses

1999 ◽  
Vol 90 (2) ◽  
pp. 348-354 ◽  
Author(s):  
Venita Jay ◽  
Vern Edwards ◽  
Eelco Hoving ◽  
James Rutka ◽  
Laurence Becker ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
In Situ Hybridization ◽  
Ganglion Cells ◽  
Molecular Genetic ◽  
Central Neurocytoma ◽  
Molecular Genetic Analysis ◽  
Fish Analysis ◽  
Chain Reaction ◽  
Polymerase Chain

✓ The results of cytogenetic and molecular genetic analysis of a central neurocytoma are presented. Central neurocytomas are intriguing neoplasms that exhibit primarily neuronal, but also glial characteristics, which indicate an origin from a pluripotential neuroglial precursor. The authors describe an intraventricular neurocytoma in an 11-year-old boy that showed anaplastic features with widespread necrosis and mitoses, as well as extensive calcification and foci that exhibited marked neuronal differentiation with clusters of ganglion cells. Immunohistochemical examination showed prominent synaptophysin and neurofilament positivity and focal glial fibrillary acidic protein positivity. Electron microscopy revealed abundant neuritic processes with microtubules and dense core granules as well as mature ganglion cells. Flow cytometry studies revealed increased S (7.8%) and G2M (9.7%) phase components. Molecular and cytogenetic studies were undertaken to assess whether there were similarities to two other tumor types that exhibit neuronal differentiation, the neuroblastoma and medulloblastoma. Polymerase chain reaction and fluorescence in situ hybridization (FISH) analysis revealed no evidence of amplification of the MYCN oncogene or chromosome 1p deletion, which are common in neuroblastomas. Chromosomal analysis by G banding revealed a complex karyotype, with counts in the near-diploidy range (45–48). Two chromosomes 1 appeared normal on G banding and FISH analysis, with p58 signals present on the distal p arm of both chromosomes 1; however, three additional copies of distal 1q were present in rearrangements with 4 and 7. Although the histological findings indicate a kinship to the neuroblastoma and medulloblastoma, the central neurocytoma appears to have a different karyotypic profile, although more cases need to be assessed using molecular genetic analysis.

scholarly journals Chickpea genotypes characteristics on resistance to fusarium Fusarium oxysporum f. sp. ciceris

2018 ◽  
Vol 23 ◽  
pp. 166-169
Author(s):  
V. A. Chekalov ◽  
N. E. Volkova
Keyword(s):  
Polymerase Chain Reaction ◽  
Molecular Markers ◽  
Fusarium Oxysporum ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Chain Reaction ◽  
Resistance Level ◽  
Extraction And Purification ◽  
Polymerase Chain ◽  
Southern Ukraine

Aim. Molecular-genetic analysis of the chickpea genotypes for foc0, foc3, foc4 resistance genes to Fusarium oxysporum f. sp ciceris. Methods. Extraction and purification of DNA, spectrophotometry, polymerase chain reaction, electrophoresis in polyacrylamide gels. Results. 35 chickpea lines and varieties of Ukrainian and foreign breeding characterized according to genotyping on foc0, foc3, foc4 genes of resistance to Fusarium oxysporum f. sp ciceris by the microsatellite markers TA59, TR19 and TR59. Fragments of the expected size for all markers were obtained for samples, for which the resistance level was fixed to certain races. Match between data on the presence of a amplification fragment of a certain size and resistance level among other samples is not found. Conclusions. For 35 chickpea varieties and lines the allele state of foc0, foc3, foc4 genes of resistance to the F. oxysporum f. sp ciceris races 0, 3, 4 is established. The variety ‘Pam’yat’ is recommended as a control of resistance to F. oxysporum f. sp ciceris races 0, 3, 4 in the southern Ukraine conditions. Keywords: chickpea, genes, molecular markers, fusarios, resistance.

scholarly journals Rapid preparation of tissue DNA from paraffin-embedded blocks and analysis by polymerase chain reaction.

1993 ◽  
Vol 41 (5) ◽  
pp. 765-768 ◽  
Author(s):  
B F Chen ◽  
S Clejan
Keyword(s):  
Polymerase Chain Reaction ◽  
Molecular Genetic ◽  
P53 Gene ◽  
Molecular Genetic Analysis ◽  
Chain Reaction ◽  
Rapid Preparation ◽  
Paraffin Block ◽  
Pcr Products ◽  
Embedded Blocks ◽  
Polymerase Chain

We have developed a new, easy, and more rapid method for DNA preparation, which avoids contamination. With this method, manual surgical blade scrapings from precisely targeted areas of paraffin block surfaces, without microtome cutting, were used to obtain tissues from 10 different neoplasms. Our results indicate the feasibility of DNA extraction from the scraped paraffin tissue for molecular genetic analysis. We applied this technique successfully to screen for the presence of human papillomavirus using the polymerase chain reaction (PCR) procedure in cases of endocervical, esophageal, and nasopharyngeal carcinomas, and to examine the expression of p53 gene from prostate and gastric adenocarcinomas. We conclude that this procedure is also suitable for purification of PCR products in analysis of the mutation or loss of allelic genes by Bstu I endonuclease digestion.

scholarly journals Prevalence of beta thalassemia mutations in population of Gujarat using amplification-refractory mutation system–polymerase chain reaction

2019 ◽  
Vol 6 (8) ◽  
pp. 3294
Author(s):  
Pankaj K. Gadhia ◽  
Salil N. Vaniawala ◽  
Tushar B. Kachhadiya
Keyword(s):  
Polymerase Chain Reaction ◽  
Genetic Analysis ◽  
Prevalence Rate ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Beta Thalassemia ◽  
Amplification Refractory Mutation System ◽  
Chain Reaction ◽  
Mutation System ◽  
Polymerase Chain

Background: Beta thalassemia is the most common genetic disorder in India. Its trait, coinheritance and mutations vary from mild to severe condition, resulting in thalassemia minor (heterozygous), intermediate and major depending upon many factors. The objective of this study was to find out the prevalence rate and the carrier of beta thalassemia in population of Gujarat using molecular genetic analysis of beta thalassemia patients by targeted mutation assay (ARMS-PCR).Methods: A total 105 samples for beta thalassemia were analysed for IVS 1-5 (G→C) and CD 15 (G→A) mutations. These two common mutations of thalassemia in Gujarat were carried out using amplification refractory mutation system–polymerase chain reaction (ARMS-PCR) and gel electrophoresis method.Results: A total 105 samples referred to us for molecular genetic analysis. The occurrence of positive mutations of IVS 1-5 (G→C) and CD 15 (G→A) were found in 48 and 15 samples respectively. The rest were negatives.Conclusions: Present study concludes that the prevalence rate of Beta thalassemia was widespread among the Gujarat population. The identification of IVS 1-5 (G→C) and CD 15 (G→A) mutations was carried out. The analysis revealed that, mutational patterns of IVS 1-5 (G→C) was the most frequent among other mutations in Gujarat region. 

Persistent Leptospiruria in Five Dogs Despite Antimicrobial Treatment (2000–2017)

2019 ◽  
Vol 55 (1) ◽  
pp. 42-47 ◽  
Author(s):  
Tara Mauro ◽  
Kenneth Harkin
Keyword(s):  
At Risk ◽  
Polymerase Chain Reaction ◽  
Antimicrobial Treatment ◽  
Renal Tubules ◽  
Chain Reaction ◽  
Polymerase Chain Reaction Testing ◽  
Pet Owners ◽  
Zoonotic Risk ◽  
The Face ◽  
Polymerase Chain

ABSTRACT In dogs with leptospirosis, doxycycline therapy is recommended as the preferred therapy for its ability to eliminate the organism from all tissues, including the renal tubules. Elimination of organisms from the renal tubules terminates leptospiruria and prevents transmission of the organism. This report describes the discovery of persistent leptospiruria in the face of therapy with doxycycline in four dogs and enrofloxacin in one dog. Leptospiruria was confirmed by polymerase chain reaction testing for pathogenic leptospires in all five dogs. In two dogs, leptospiruria resolved after a change in therapy to enrofloxacin. In three dogs, doxycycline and/or enrofloxacin were ineffective at eliminating leptospiruria, which then resolved after therapy with clarithromycin. Pet owners could be at risk as persistent leptospiruria poses a potential zoonotic risk. The potential reasons for persistent leptospiruria as demonstrated by polymerase chain reaction testing are discussed.

Sex determination in ostrich (Struthio camelus) using DNA markers

2010 ◽  
Vol 90 (3) ◽  
pp. 357-360 ◽  
Author(s):  
M. Alipanah ◽  
A. Torkamanzehi ◽  
H. Taghavi
Keyword(s):  
Polymerase Chain Reaction ◽  
Sexual Dimorphism ◽  
Sex Determination ◽  
Sex Chromosome ◽  
Molecular Genetic ◽  
Bird Species ◽  
Rapid Identification ◽  
Chain Reaction ◽  
Struthio Camelus ◽  
Polymerase Chain

Production of bird species such as ostrich (Struthio camelus) has been gaining increasing importance in Iran as well as many other countries. Ostrich, similar to many other species of birds, lacks sexual dimorphism, making it difficult to differentiate between males and females, especially at an early age, which can be problematic in breeding programs. Recently developed molecular genetic methods that utilize polymerase chain reaction (PCR) based techniques can facilitate rapid identification of the bird’s sex in these species using a DNA sample, which can be easily extracted from blood or feather pulps. We successfully applied a PCR-based RFLP technique and sex chromosome primers for sex determination in a sample of 30 Ostrich chicks using DNA extracted from blood and feather pulps. Both DNA samples (blood and feather pulps) provided useful results. However, using feather pulps from 1-day-old chicks can provide an easy and inexpensive method for sex determination in ostrich. Key words: Ostrich (struthio camelus), sex determination, sexual dimorphism, polymerase chain reaction, RFLP

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