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Hematopathology and molecular hematology最新文献

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Molecular analysis of a silent polymorphism in the PDZ domain of p55, the major palmitoylated erythrocyte membrane protein. 主要棕榈酰化红细胞膜蛋白p55的PDZ结构域沉默多态性的分子分析。
Hematopathology and molecular hematology Pub Date : 1996-01-01
P Ruff, E Grimm, A Kim
{"title":"Molecular analysis of a silent polymorphism in the PDZ domain of p55, the major palmitoylated erythrocyte membrane protein.","authors":"P Ruff,&nbsp;E Grimm,&nbsp;A Kim","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Two independently published cDNA sequences of p55, the X-linked major palmitoylated erythrocyte membrane protein, revealed a discrepancy between G and T at position 358 (Genbank: M64925). This results in codon 85, in exon 3 in the PDZ (PSD-95, discs-large, Z0-1) domain, being either ACG or ACT. As both ACG and ACT code for threonine, this represents a silent polymorphism. Polymerase chain reaction (PCR), single-stranded conformational polymorphism (SSCP), and direct-sequencing analysis of exon 3 of the p55 gene was performed in 98 subjects of African and European origin. Of the 70 females studied, the frequency of G versus T at position 358 was 0.76:0.24, while of the 28 males, 16 had a G and 12 a T at position 358 (0.57:0.43). In subjects of African origin, the frequency of G versus T at position 358 was 0.78:0.22; in subjects of European origin the ratio was 0.63:0.37.</p>","PeriodicalId":79440,"journal":{"name":"Hematopathology and molecular hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19999670","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Double minute chromosomes contain amplified c-myc oncogene sequences in acute myeloid leukemia. 急性髓系白血病的双分钟染色体含有扩增的c-myc癌基因序列。
Hematopathology and molecular hematology Pub Date : 1996-01-01
A N Mohamed, S Mahalak, S B Goldfarb, M Palutke
{"title":"Double minute chromosomes contain amplified c-myc oncogene sequences in acute myeloid leukemia.","authors":"A N Mohamed,&nbsp;S Mahalak,&nbsp;S B Goldfarb,&nbsp;M Palutke","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We describe two elderly male patients with acute myeloid leukemia transformed from myelodysplastic bone marrow. Neither patients had a history of prior exposure to mutagenic agents or other malignancies. Chromosome analysis at the time of initial diagnosis revealed 47,XY,del(5)(q14q33),+21 in patient 1 and 45,XY,add(1)(q23),-5,del(8)(p11.2p23),der(17)t(5;17)(p12;p11.2) in patient 2. In addition, numerous copies of double minute chromosomes were seen in both patients. We used fluorescence in situ hybridization to identify the amplified sequences presumed to represent the dmins in the leukemic cells. In both cases, it appeared that the dmins were derived from specific amplification of c-myc oncogene.</p>","PeriodicalId":79440,"journal":{"name":"Hematopathology and molecular hematology","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"1996-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"19999672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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