A new human malignant peripheral nerve sheath tumour-cell line, HS-sch-2, harbouring p53 point mutation.
H SonobeTamotsu TakeuchiM FurihataTakahiro TaguchiAyumi KawaiYuko OhjimiHiroshi IwasakiYasuhiko KanekoY Ohtsuki
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Only a few human malignant peripheral nerve sheath tumour (MPNST)-cell lines have been reported, and their characteristics have not been fully established. In this study, we established a new human cell line, HS-Sch-2, from an MPNST of the ordinary type which arose in a 54-year-old woman without von Recklinghausen's disease. This cell line was characterized by chromosome analysis, immunohistochemistry, ultrastructural examination, and direct sequencing of the p53 gene. The HS-Sch-2 cells have grown for more than 48 months in vitro, and exhibited hypotriploid karyotypes with complex chromosome abnormalities lacking a specific pattern. Histological features of the heterotranplanted nude mouse tumours were essentially the same as those of the original MPNST, with positive reactions for S-100 protein and neuron-specific enolase but not for epithelial membrane antigen, fibronectin or CD34. Ultrastructural examination in vivo revealed intricate interdigitation of long cytoplasmic processes and basal lamina-like structures. In addition, direct sequencing of the p53 gene detected a point mutation from CGT to CAT at codon 273 in exon 8. This HS-Sch-2 cell line, which exhibits distinctive morphological characteristics of MPNST and a p53 point mutation, will be useful for biological and pathological investigations of MPNST.Objective To analyze p 53 gene exon 5 mutations in esophageal cancer (EC) specimens in Xi'an city and Linzhou city.Methods Polymerase chain reaction (PCR) direct sequencing technique was used to detect the alteration of p 53 gene exon 5 for EC specimens from Xi'an city and Linzhou city.Results Mutation rate of p 53 gene exon 5 mutation in Xi'an and Linzhou EC specimens were 14 3%(6/42) and 18 6%(9/43) respectively, which were not significantly different ( P 0 05).Point mutation was the main mutation type.In Xi'an EC specimens, there were six mutation sites including 4-point mutation and 2 base deletions.In Linzhou EC specimens,there were 10 mutation sites,including 9-point mutation and 1 insert mutation.In Xi'an p 53 gene exon 5 mutations were in 126 to 128 bases (4/6),while in Linzhou EC specimens only two had mutations in thiese sites.But these distributions of mutation sites were not significantly different ( P 0 05).Conclusion The p 53 gene exon 5 mutation sites in Xi'an were relatively concentrated;in Linzhou were relatively scattered in different codes,which might be owing to the great variety of risk factors in this district.
Mutation Testing
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The mutation analysis of alpha-galactosidase A gene was carried out in two families with Fabry disease described by us earlier. In the family P. a new point mutation E341K (a G to A transition at position 10,999 of the gene) was identified. The mutation causes a Glu341Lys substitution in alpha-galactosidase A molecule. Another point mutation was identified in a patient from family N. who had unusual unusually high residual activity of alpha-galactosidase A. The mutation was identified as R112C (a C to T transition at position 5233 of alpha-galactosidase A gene) and it caused the Arg112Cys substitution in the enzyme molecule. This mutation was earlier described in Japanese patient with showed a complete loss of enzyme activity. However, in this case the mutation was combined with another mutation Glu66Gln. The relationship between genetic heterogeneity and clinical manifestation of Fabry disease is discussed.
Alpha (finance)
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Objective: To study the common mutation types and forms of Wilson's Diseases(WD) ATP7B gene.Methods: Peripheral blood DNA were obtained from 30 patients and exons 5,8,12 of ATP7B gene were amplified by PCR and DNA sequencing was applied.Results: The 6 types of mutations found in 30 patients were all point mutation.Among them,5 were identified in exon 8,accounting for 40.00%;1 in exon 12,accounting for 23.33%.No mutation was observed in exon 5.Conclusions: Exons 8 and 12 of ATP7B gene may be the hot points of WD genetic mutation in the population,and Arg778Leu and Arg952Lys may be the mutation point of high frequency.Since no mutation was observed in exon 5,priority should be given to exons 8 and 12 in genetic mutation detection for WD patients.
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Sickle-cell anemia is caused mutation at molecular point-6 of hemoglobin beta polypeptide chain that would be bisectional significant site shows a deleterious mutation. P53 is a tumor suppresor protein having a curious interaction between molecular point and amino acid composition and is inactivated by several biophysical mutations at its core domain with fall of thermodynamic stability tends to disorder.
Genetic disorder
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Severe factor VII deficiency caused by a novel point mutation (Arg353Pro) combined with a rare Cys22Arg mutation -
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Objective:The major aim of this study is to analyze the point mutation at the codon 54th of MBL in healthy North Huis,and to measure the plasma levels of MBL, and to analyze the association between the mutation frequency and plasma MBL concentrations.Methods:PCR-RFLP was used to detect MBL point mutation.MBL plasma concentrations were measured using MBL Oliger ELISA kit.Results:Frequency of point mutation at the codon 54th of MBL in healthy Huis was 0.15. The plasma MBL concentration was (3.40±2.55)mg/L. There was negative correlation between MBL concentrations and gene mutation frequency in huis(r=-0.67).Conclusion:The relationship between frequency of mutation at codon 54 of MBL gene and the plasma MBL concentrations in healthy Huis is negative correlation.
Mutation frequency
Positive correlation
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Nonsynonymous substitution
Pseudogene
Synonymous substitution
Silent mutation
Nonsense mutation
Neutral mutation
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Objective:This study is designed to investigate the mutation status of BRAF in Chinese mucosa,acral and non-acral skin malignant melanoma(MM) patients.Methods:Exon 11 and 15 of BRAF were amplified from tissue samples of 90 cases of Chinese MM patients by PCR;direct sequencing was applied to detect mutations in both exons.Results:BRAF mutation rate in mucosa,acral and non-acral skin MM tissues was 23.3%(7/30),16.7%(5/30)and 43.3%(13/30).One case in 25 was tandem mutation and 24 were point mutations.One mutation lied in exon 11 and 24 lied in exon 15,and V600E comprises 83.3% of all mutations in exon 15.Conclusion:BRAF mutation is frequent in non-acral MM of Chinese patients,and most in exon 15 with V600E point mutation,which renders it a potential drug target to be studied.
V600E
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Objective:To detect the mutation status of K-ras gene in colorectal cancers and to assist the clinical treatments.Methods:DNA was extracted from fifteen formalin-fixed,paraffin-embedded tumor samples of colorectal cancers,and then the fragments containing codons 12,13 and codon 61 were amplified by PCR.The sequences were indentified by direct sequencing which is gold standard for the detection of mutation.Results:In the 15 samples of colorectal cancer patients,4 mutations were observed,with 2 in codon 12 and 2 in codon 13.Suprisingly,a novel point mutation at codon 42 of K-ras was found,and coexisted with mutation in codon 12.Conclusion:Except for codons 12,13,61 mutation,K-ras has other mutation at codon 42 with coexisted with codon 12 point mutation.
Stop codon
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배경: 폐암에서의 EGFR 돌연변이는 폐암을 유발시키는 돌연변이(driver mutation)로 알려져 있다. 대부분의 경우 선암(adenocarcinoma)에서 발견되고 EGFR kinase domain 부분인 exon 18~21 에 변이가 있고 90% 정도가 exon 19 deletion 이나 exon 21 L858R point mutation으로 발현 되는것으로 확인되었다. 하지만 두가지 변이가 동시에 발견된 증례는 아직까지 보고되지 않았다. 소개할 환자는 비소세포폐암 선암종 진단 후 시행한 EGFR mutation 검사상 19 deletion과 21 L858R point mutation 이 동시에 발견되어 이에 대해 보고하는 바이다. 증례: 48세 남자환자로 2015년도 9월 종합검진으로 시행한 가슴전산화단층촬영 상 우상엽 3cm 종괴 관찰되어 추가 검사 진행 위해 입원하였다. 입원 후 시행한 세침조직검사 결과 비소세포폐암 선암종으로 결과 보고되었고 이후 병기 설정 위한 추가 검사 시행하여 뇌, 흉막, 양쪽 폐 침범 소견 관찰되었고 병기4로 진단하였다. 뇌병변에 대해 2015년 10월 13일에서 15일까지 정위적방사선분할치료 시행 하였고 2015년 10월 12일 부터 아파티닙 30mg(지오트립) 경구항암제 사용중이고 이후 시행한 가슴전산화단층촬영상 부분 관해 소견 보이며 현재까지 외래 경과 관찰중이다. 고찰: EGFR mutation 은 TKI 항암제를 사용하는데 지표로 활용되는 염색체 이상 소견으로 exon mutation 이 동시에 두개를 보이는 경우는 현재까지 보고 되지 않았다. Exon 19 deletion 과 exon 21 L858R point mutation 두가지 유전자 변형이 동시에 관찰된 특이 증례에 대해 보고하는 바이다.
Exon trapping
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