STUDY OF THE AVERAGE AGE OF OCCURRENCE OF GENE MUTATIONS IN ACUTE MYELOMONOBLASTIC LEUKEMIA

2020 ◽  
Vol 17 (3) ◽  
pp. 206-209
Author(s):  
A.V. Vinogradov ◽  
Keyword(s):  
Chromosomal Abnormalities ◽  
Point Mutations ◽  
Gene Mutations ◽  
Normal Karyotype ◽  
Tp53 Gene ◽  
The Elderly ◽  
Chain Reaction ◽  
Sequencing Method ◽  
Polymerase Chain ◽  
Detection Of Mutations

Aim: to determine the average age of occurrence of gene mutations in acute myelomonoblastic leukemia (AMML). Materials and methods. Bone marrow and peripheral blood samples from 40 patients (average age 50 years, including 13 aged 15 to 45 years, 15 aged 45-60 years, 12 aged over 60 years) with newly detected AMML were examined. Detection of chromosomal abnormalities was performed using standard cytogenetic and real-time polymerase chain reaction methods. Point mutations were screened in 8 genes: FLT3 (n=35), NPM1 (n=25), TP53 (n=24), C-KIT (n=23), NRAS (n=19), WT1 (n=18), DNMT3A (n=13), and KRAS (n=4) by direct automatic sequencing method. Results. The majority of patients (56.3%) had a normal karyotype, 15.6% had aneuploid karyotype, and 28.1% had other structural and quantitative chromosome abnormalities. 35.0% of patients had point mutations in the studied genes at the time of diagnosis of OMML. The highest mutation rates were found for the DNMT3A (30.8%), NPM1 (20.0%), and FLT3 (20.0%) genes. The frequency of double mutants was 15.2%. The average age of detection of mutations in the c-KIT and NPM1 genes corresponded to young adults (33.5±2.9 and 44.2±11.4, respectively), for 3 genes — to middle age (DNMT3A — 49.3±18.4; WT1 — 51.0; FLT3 — 54.0±12.3), for the TP53 gene — to the elderly (n=1, 63 years). The average age of double mutants was 42.2±13.7 years due to NPM1 and c-KIT co-mutations.

Analysis of the Gs α gene in growth hormone-secreting pituitary adenomas by the polymerase chain reaction-direct sequencing method using paraffin-embedded tissues

1993 ◽  
Vol 129 (4) ◽  
pp. 301-306 ◽  
Author(s):  
Emiko Hosoi ◽  
Yutaka Yokogoshi ◽  
Eiji Hosoi ◽  
Hidetaka Horie ◽  
Toshiaki Sano ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Polymerase Chain Reaction ◽  
Pituitary Adenomas ◽  
Direct Sequencing ◽  
Point Mutations ◽  
Chain Reaction ◽  
Cell Adenoma ◽  
Sequencing Method ◽  
Direct Sequencing Method ◽  
Polymerase Chain

We investigated the prevalence of Gs α gene mutations in growth hormone (GH) secreting pituitary adenomas from Japanese patients with acromegaly. Forty-five GH-secreting adenomas were examined for the presence of point mutations in codons 201 or 227 of the Gs α gene using the polymerase chain reaction-direct sequencing method and deoxyribonucleic acid extracted from paraffin-embedded tumor specimens. Mutation of codon 227 of the Gs α gene was not observed in any of the tumors, but a mis-sense mutation of codon 201 was identified in two tumors (4.4%). One lesion was a densely granulated GH cell adenoma in a patient with adenomatous goiter and breast cancer. The other was a mixed GH cell-prolactin cell adenoma in a patient with multiple endocrine neoplasia type 1 associated with parathyroid hyperplasia and a pancreatic islet cell tumor. The Gs α gene detected in parathyroid tissue and pancreatic tumor tissue was of the wild type in this second patient, and the mutation was specific to the pituitary tumor. These results suggest that point mutations of codons 201 or 227 of the Gs α gene may not be important mediators of oncogenesis for GH-secreting pituitary adenomas in Japan.

scholarly journals Detection of gene mutations by reverse transcription-polymerase chain reaction and direct sequence method in X-linked Alport syndrome

1998 ◽  
Vol 11 (1) ◽  
pp. 69-73
Author(s):  
Yuji Inoue ◽  
Kukiko Noguchi ◽  
Koichi Nakanishi ◽  
Kazumoto Iijima ◽  
Hajime Nakamura ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Reverse Transcription ◽  
Alport Syndrome ◽  
Gene Mutations ◽  
Direct Sequence ◽  
Chain Reaction ◽  
Sequence Method ◽  
Polymerase Chain

Norwalk-like Virus Sequences Detected by Reverse Transcription-Polymerase Chain Reaction in Mineral Waters Imported into or Bottled in Switzerland

2000 ◽  
Vol 63 (11) ◽  
pp. 1576-1582 ◽  
Author(s):  
CHRISTIAN BEURET ◽  
DOROTHE KOHLER ◽  
THOMAS LÜTHI
Keyword(s):  
Polymerase Chain Reaction ◽  
Reverse Transcription ◽  
Carbonic Acid ◽  
Point Mutations ◽  
Chemical Properties ◽  
The United States ◽  
Mineral Waters ◽  
Nucleotide Sequence Analysis ◽  
Chain Reaction ◽  
Polymerase Chain

Norwalk-like viruses (NLVs) is a genus belonging to the Caliciviridae. NLVs are transmitted by the fecal-oral and the aerosol route and are the most common cause of outbreaks of nonbacterial gastroenteritis. NLVs are responsible for an estimated 67% of all illnesses caused by known foodborne pathogens and for 96% of nonbacterial gastroenteritis in the United States. Many outbreaks could be associated with the consumption of primarily or secondarily contaminated foods. To our knowledge, no epidemic arising from contaminated mineral water has been reported. We investigated the presence of NLV sequences in 63 mineral waters of 29 different brands that were imported into or bottled in Switzerland. NLV sequences were detected in 21 mineral waters by reverse transcription-seminested polymerase chain reaction. Specimens of two NLV genogroups (gg), gg I and gg II, were randomly present in the contaminated samples. The presence of NLV sequences could not be correlated either with bottle characteristics or with chemical properties like mineralization, pH, or the presence of carbonic acid. Nucleotide sequence analysis of 12 NLV-positive samples revealed several point mutations. All isolated NLV gg I strains have a similarity of 70 to 87% with the common Desert Shield virus (UO4469), and all isolated NLV gg II strains have a similarity of 89 to 93% with the Camberwell virus (U46500). Possible reasons for the presence of NLV sequences in mineral waters are discussed.

scholarly journals Precision of genotyping of Epstein-Barr virus by polymerase chain reaction using three gene loci (EBNA-2, EBNA-3C, and EBER): predominance of type A virus associated with Hodgkin's disease [published erratum appears in Blood 1993 Oct 1;82(7):2268]

Blood ◽  
1993 ◽  
Vol 81 (12) ◽  
pp. 3372-3381 ◽  
Author(s):  
JC Lin ◽  
SC Lin ◽  
BK De ◽  
WC Chan ◽  
BL Evatt ◽  
...  
Keyword(s):  
Polymerase Chain Reaction ◽  
Cell Lines ◽  
Epstein Barr Virus ◽  
Point Mutations ◽  
Type A ◽  
Type B ◽  
Chain Reaction ◽  
Barr Virus ◽  
Polymerase Chain ◽  
Epstein Barr

Abstract To precisely determine the genotype of Epstein-Barr virus (EBV) in Hodgkin's disease (HD), we simultaneously analyzed three divergent gene loci (EBNA-2, EBNA-3C, and EBER) that distinguish type A and B viruses. The primers designed to amplify these three gene loci encompass either type-specific deletion sequences (EBNA-2 and EBNA-3C) or type-specific point mutations (EBER) that identify the virus strain based on the sizes of the polymerase chain reaction (PCR)-amplified products or the mobility shifts in single-strand conformation polymorphism analysis. The locations of point mutations were identified by direct sequencing of the PCR-amplified DNA. We analyzed 15 EBV-infected cell lines and found a good correlation between EBNA-2 and EBNA-3C typing results. In contrast, approximately 33% of the cell lines analyzed maintained type A sequences in EBNA-2 and EBNA-3C genes while carrying type B sequences in the EBER region. Data obtained from analysis of cell lines served as a reference for studying HD samples. EBV DNA was detected in about 70% of HD. Among the EBV-positive samples, 56% were associated with type A virus, 13% with type B, and 31% with dual viral sequences. Thus, type A virus is predominant in HD. Based on the histology, the frequencies of EBV positivity were 83%, 71%, and 33% for mixed cellularity, nodular sclerosis, and lymphocyte predominance, respectively. The detection of high frequency of both type A and B sequences in HD may provide a lead in investigating the role of dual viral infection in EBV pathogenesis.

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

2019 ◽  
Vol 32 (11) ◽  
pp. 1207-1215
Author(s):  
Babak Emamalizadeh ◽  
Yousef Daneshmandpour ◽  
Abbas Tafakhori ◽  
Sakineh Ranji-Burachaloo ◽  
Sajad Shafiee ◽  
...  
Keyword(s):  
Protein Structure ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Protein Product ◽  
Structure And Function ◽  
Novel Mutations ◽  
Chain Reaction ◽  
Abcd1 Gene ◽  
Polymerase Chain ◽  
And Function

Abstract Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families. Methods Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed by polymerase chain reaction (PCR) followed by direct sequencing of all exons. The identified mutations were investigated using bioinformatics tools to predict their effects on the protein product and also to compare the mutated sequence with close species. Results One previously known missense mutation (c.1978 C > T) and three novel mutations (c.1797dupT, c.879delC, c.1218 C > G) were identified in the ABCD1 gene, each in one family. Predicting the effects of the mutations on protein structure and function indicated the probable damaging effect for them with significant alterations in the protein structure. We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD.

Sign in / Sign up

Export Citation Format

Share Document