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人类中性α-葡萄糖苷酶C基因定位于15号染色体。

Assignment of the gene for human neutral alpha-glucosidase C to chromosome 15.

作者信息

Martiniuk F, Hirschhorn R, Smith M

出版信息

Cytogenet Cell Genet. 1980;27(2-3):168-75. doi: 10.1159/000131478.

Abstract

Human neutral alpha-glucosidase C (GANC) can be separated from the homologous mouse isozyme by starch gel electrophoresis at pH 6.5. A total of 40 clones (13 primary and 27 secondary) were derived from eight separate hybridization experiments between the mouse HPRT deficient RAG cell line and eight different human long term lymphoid cell lines or fetal cells. The thirteen primary clones showed 100% concordance between the expression of the human enzyme and the presence or absence of human chromosome 15. Analysis of the 27 secondary clones showed only two subclones discordant for segregation of human GANC and enzyme markers for 15. The two apparently discordant clones for human GANC were both derived from the same RAG X human fetal lung primary clone, and both lacked GANC activity, while retaining a 15. Since human GANC is polymorphic with a null allele at high frequency (MARTINIUK and HIRSCHHORN, 1980), it is possible that these subclones carried one chromosome with a null allele for GANC. Alternatively there could been an undetected chromosome break between the GANC locus and the loci of the marker enzymes. Whatever the reason for the two apparently discordant subclones, combined data from all 40 clones show 95% concordant segregation for human GANC and No. 15.

摘要

人中性α-葡萄糖苷酶C(GANC)可通过在pH 6.5条件下的淀粉凝胶电泳与同源小鼠同工酶分离。从小鼠次黄嘌呤磷酸核糖转移酶(HPRT)缺陷的RAG细胞系与8种不同的人长期淋巴细胞系或胎儿细胞进行的8次独立杂交实验中总共获得了40个克隆(13个初级克隆和27个次级克隆)。13个初级克隆显示人酶的表达与人类15号染色体的存在与否之间完全一致。对27个次级克隆的分析表明,只有两个亚克隆在人GANC和15号染色体的酶标记物分离方面不一致。这两个明显与人GANC不一致的克隆均来自同一个RAG×人胎儿肺初级克隆,且都缺乏GANC活性,同时保留了一条15号染色体。由于人GANC具有多态性,高频存在无效等位基因(MARTINIUK和HIRSCHHORN,1980年),这些亚克隆有可能携带一条带有GANC无效等位基因的染色体。或者,在GANC基因座和标记酶基因座之间可能存在未检测到的染色体断裂。无论这两个明显不一致的亚克隆的原因是什么,来自所有40个克隆的综合数据显示人GANC和15号染色体的共分离一致性为95%。

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