scholarly journals Analysis of ras gene mutations in biliary and pancreatic tumors by polymerase chain reaction and direct sequencing

Cancer ◽  
1990 ◽  
Vol 66 (5) ◽  
pp. 930-935 ◽  
Author(s):  
Minoru Tada ◽  
Osamu Yokosuka ◽  
Masao Omata ◽  
Masao Ohto ◽  
Kaichi Isono
Keyword(s):  
Polymerase Chain Reaction ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Pancreatic Tumors ◽  
Chain Reaction ◽  
Ras Gene ◽  
Polymerase Chain

scholarly journals Korelasi Genotip-Fenotip Pasien Talasemia Beta Di Kota Samarinda Kalimantan Timur Tahun 2019

2020 ◽  
Vol 48 (2) ◽  
pp. 91-98
Author(s):  
Zaenal Adi Susanto ◽  
Wahyu Siswandari ◽  
Lantip Rujito
Keyword(s):  
Polymerase Chain Reaction ◽  
Dna Analysis ◽  
Statistical Tests ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Beta Thalassemia ◽  
Chain Reaction ◽  
Spearman Rank ◽  
Blood Disorder ◽  
Polymerase Chain

Abstract Thalassemia is a genetic blood disorder that is autosomal recessive and is quite common throughout the world. This study aims to determine the relationship of Hemoglobin beta (HBB) gene mutations types with clinical levels and hematological in the subjects of 31 thalassemia-beta patients in Samarinda City. Blood samples were taken from patients to obtain their DNA then amplified them with the Polymerase Chain Reaction and direct sequencing techniques to analyze the hemoglobin-beta gene mutation. Javanese ethnics is the most dominant in this study (64.5%) and the most common clinical levels is the moderate category (77.4%). The mean MCV and MCH values were 72±5,5 fL and 24±3,3 pg. DNA analysis found 8 types of mutant alleles including 48.4% of Cd26 / HbE (GAG>AAG), 14.5% of IVS-1-5 (G>C) 12.9% of IVS-1-2 (T>C, ,8.1% of Cd35 (-C) , 6.5% of IVS-1-1 (G>T) 3.2% of Cd30 (AGG>ACG) , Cd60 (GTG>GAG) and Cd2 (CAT>CAC ) are 1.6% each. This study found mutations that had not been previously reported in Indonesia, namely Cd60 (GTG>GAG) and Cd2 (CAT>CAC). Spearman rank statistical tests show there is no significant relationship between the two studied variables. Keyword: Beta-thalassemia mutation, Clinical levels, Hematological Abstrak Talasemia merupakan salah satu kelainan darah genetik yang bersifat autosomal resesif dan cukup banyak ditemui di seluruh dunia. Diperkirakan 3-10 persen masyarakat Indonesia adalah pembawa sifat talasemia dengan berbagai macam latar belakang etnik. Studi ini bertujuan untuk mengetahui hubungan jenis mutasi gen hemoglobin beta (HBB) dengan derajat klinis dan pemeriksaan darah pada 31 pasien talasemia-beta di Kota Samarinda Provinsi Kalimantan Timur pada bulan Mei tahun 2019. Sampel darah pasien diambil untuk memperoleh DNA kemudian dilakukan amplifikasi dengan Polymerase Chain Reaction dan dilakukan teknik direct sekuensing untuk menganalisis mutasi gen hemoglobin-beta. Etnik Jawa merupakan yang dominan dalam penelitian ini (64,5%) dan derajat klinis paling umum adalah kategori sedang (77,4%). Rerata nilai MCV dan MCH masing-masing adalah 72±5,5 fL dan 24±3,3 pg. Analisa DNA didapatkan 8 jenis alel mutan yaitu Cd26/HbE (GAG>AAG) 48,4% selanjutnya IVS-1-5 (G>C) 14,5%, IVS-1-2 (T>C) 12,9%, Cd35 (-C) 8,1%, IVS-1-1 (G>T) 6,5%, Cd30 (AGG>ACG) 3,2%, Cd60 (GTG>GAG) dan Cd2 (CAT>CAC) masing-masing 1,6%. Studi ini menemukan mutasi yang belum dilaporkan pada penelitian sebelumnya di Indonesia yaitu Cd60 (GTG>GAG) dan Cd2 (CAT>CAC). Uji statistik spearman rank menunjukkan tidak terdapat hubungan bermakna antara ke dua variabel yang diteliti. Kata kunci: Mutasi talasemia beta, Derajat klinis, Hematologis

Automated direct sequencing of polymerase chain reaction-amplified fragments of the human Ha-ras gene

1990 ◽  
Vol 191 (2) ◽  
pp. 359-364 ◽  
Author(s):  
Nestor Gonzalez-Cadavid ◽  
Richard A. Gatti ◽  
Harry Neuwirth
Keyword(s):  
Polymerase Chain Reaction ◽  
Direct Sequencing ◽  
Chain Reaction ◽  
Ras Gene ◽  
Polymerase Chain

scholarly journals Analysis of N-RAS exon-1 mutations in myelodysplastic syndromes by polymerase chain reaction and direct sequencing

Blood ◽  
1989 ◽  
Vol 73 (1) ◽  
pp. 281-283 ◽  
Author(s):  
M Bar-Eli ◽  
H Ahuja ◽  
N Gonzalez-Cadavid ◽  
A Foti ◽  
MJ Cline
Keyword(s):  
Polymerase Chain Reaction ◽  
Amino Acid ◽  
Aspartic Acid ◽  
Gene Amplification ◽  
Myelodysplastic Syndromes ◽  
Direct Sequencing ◽  
Chain Reaction ◽  
Ras Gene ◽  
Exon 1 ◽  
Polymerase Chain

Abstract Mutations in codons 12 or 13 of the first exon of the N-RAS gene have been reported in myelodysplastic syndromes (MDS) in frequencies that vary between 9% and 40% depending on the techniques used in analysis. Gene amplification and direct sequencing provides the only unambiguous method of detecting those mutations that induce amino acid alterations. Using this technique, we analyzed 21 MDS patients for mutations in exon- 1 of N-RAS. Codon 12 mutations substituting aspartic acid (GAT) for glycine (GGT) were found in four cases, and a codon 13 mutation substituting alanine (GCT) for glycine (GGT) was detected in one patient. We conclude that N-RAS exon-1 mutations in one patient. We conclude that N-RAS exon-1 mutations producing amino acid changes occur in about 20% to 25% of MDS cases.

scholarly journals Detection of ras gene mutations in human lung cancer: comparison of two screening assays based on the polymerase chain reaction.

1992 ◽  
Vol 98 ◽  
pp. 183-185 ◽  
Author(s):  
K Husgafvel-Pursiainen ◽  
M Ridanpää ◽  
P Hackman ◽  
S Anttila ◽  
A Karjalainen ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Polymerase Chain Reaction ◽  
Human Lung ◽  
Gene Mutations ◽  
Human Lung Cancer ◽  
Chain Reaction ◽  
Ras Gene ◽  
Polymerase Chain ◽  
Screening Assays

scholarly journals Analysis of N-RAS exon-1 mutations in myelodysplastic syndromes by polymerase chain reaction and direct sequencing

Blood ◽  
1989 ◽  
Vol 73 (1) ◽  
pp. 281-283
Author(s):  
M Bar-Eli ◽  
H Ahuja ◽  
N Gonzalez-Cadavid ◽  
A Foti ◽  
MJ Cline
Keyword(s):  
Polymerase Chain Reaction ◽  
Amino Acid ◽  
Aspartic Acid ◽  
Gene Amplification ◽  
Myelodysplastic Syndromes ◽  
Direct Sequencing ◽  
Chain Reaction ◽  
Ras Gene ◽  
Exon 1 ◽  
Polymerase Chain

Mutations in codons 12 or 13 of the first exon of the N-RAS gene have been reported in myelodysplastic syndromes (MDS) in frequencies that vary between 9% and 40% depending on the techniques used in analysis. Gene amplification and direct sequencing provides the only unambiguous method of detecting those mutations that induce amino acid alterations. Using this technique, we analyzed 21 MDS patients for mutations in exon- 1 of N-RAS. Codon 12 mutations substituting aspartic acid (GAT) for glycine (GGT) were found in four cases, and a codon 13 mutation substituting alanine (GCT) for glycine (GGT) was detected in one patient. We conclude that N-RAS exon-1 mutations in one patient. We conclude that N-RAS exon-1 mutations producing amino acid changes occur in about 20% to 25% of MDS cases.

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