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蛋白激酶Cγ基因的连锁关系排除了其作为强直性肌营养不良候选基因的可能性。

Linkage relationships of the protein kinase C gamma gene which exclude it as a candidate for myotonic dystrophy.

作者信息

Johnson K J, Jones P J, Spurr N, Nimmo E, Davies J, Creed H, Weiss M, Williamson R

机构信息

Department of Biochemistry and Molecular Genetics, St. Mary's Hospital Medical School, University of London, UK.

出版信息

Cytogenet Cell Genet. 1988;48(1):13-5. doi: 10.1159/000132577.

Abstract

Using a cDNA probe for the gamma gene of protein kinase C (PKCG), an informative RFLP with a PIC value of 0.62 has been identified with the enzyme MspI. The polymorphic bands have been assigned to chromosome 19. Analysis of the segregation of alleles for this probe in myotonic dystrophy families show several recombinants between PKCG and myotonic dystrophy (DM) and exclude this gene as a candidate for DM. Linkage relationships between PKCG and other loci on chromosome 19 are presented which exclude PKCG from the proximal region of chromosome 19 and which are consistent with the localization being at 19q13.2----qter.

摘要

利用蛋白激酶C(PKCG)γ基因的cDNA探针,用MspI酶鉴定出一种信息丰富的限制性片段长度多态性(RFLP),其多态信息含量(PIC)值为0.62。多态性条带已定位到19号染色体。对强直性肌营养不良家系中该探针等位基因分离情况的分析表明,PKCG与强直性肌营养不良(DM)之间有几个重组体,排除了该基因作为DM候选基因的可能性。本文还介绍了PKCG与19号染色体上其他位点之间的连锁关系,这些关系排除了PKCG位于19号染色体近端区域的可能性,并且与定位在19q13.2----qter一致。

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