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在一个家族中,连锁探针与强直性肌营养不良的分离表明,152和载脂蛋白C2在19号染色体上位于强直性肌营养不良的同一侧。

Segregation of linked probes to myotonic dystrophy in a family demonstrating that 152 and APOC2 are on the same side of DM on 19q.

作者信息

Johnson K, Nimmo E, Jones P, Weiss M, Savontaus M L, Anvret M, Bartlett R, Roses A, Shaw D, Harper P S

机构信息

Department of Biochemistry, St. Mary's Hospital Medical School, London, UK.

出版信息

Hum Genet. 1988 Dec;80(4):379-81. doi: 10.1007/BF00273655.

Abstract

The two markers most closely linked to the myotonic dystrophy (DM) locus on chromosome 19 are the gene that codes for apolipoprotein CII (APOC2) and the anonymous probe D19S19 (LDR152). Both of these markers show tight linkage to DM, with maximum lod scores of greater than 20 at recombination fractions of less than 0.05. We have identified, in a family in which DM segregates, an affected individual where a meiotic recombination event has occurred in which both of these linked markers have crossed over with the gene defect. This demonstrates that APOC2 and D19S19 are probably on the same side of DM.

摘要

与19号染色体上强直性肌营养不良(DM)基因座联系最紧密的两个标记是编码载脂蛋白CII(APOC2)的基因和匿名探针D19S19(LDR152)。这两个标记都与DM显示出紧密连锁,在重组率小于0.05时最大对数优势分数大于20。在一个DM发生分离的家族中,我们鉴定出一名受影响个体,其中发生了减数分裂重组事件,这两个连锁标记都与基因缺陷发生了交换。这表明APOC2和D19S19可能位于DM的同一侧。

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