Johnson K, Shelbourne P, Davies J, Buxton J, Nimmo E, Anvret M, Bonduelle M, Williamson B, Savontaus M L
Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, London, England.
Genomics. 1989 Nov;5(4):746-51. doi: 10.1016/0888-7543(89)90116-x.
We previously reported a recombination in an individual with myotonic dystrophy (DM) which placed the markers D19S19 and APOC2 on the same side of the DM locus. Haplotyping of this family with more recently characterized probes which are either tightly linked to DM or distal to the linkage group at q13.2 shows that the DM locus is distal to APOC2. This is confirmed by other recombinants where DM segregates with distal probes. Additional marker to marker recombinations in unaffected individuals are reported and support the order and orientation of the DM linkage group as pter-(INSR, LDLR,S9)-(S19,BCL3,APOC2)-(CKMM,DM)-(S22,+ ++PRKCG)-qter. The data presented here cannot determine whether DM is proximal or distal to CKMM. The consequences of this probe order for antenatal diagnosis and future research aiming to isolate the gene which is affected in DM are discussed.
我们之前报道过一名患强直性肌营养不良（DM）的个体发生了重组，该重组使标记物D19S19和APOC2位于DM基因座的同一侧。用最近鉴定的、与DM紧密连锁或在13.2q处连锁群远端的探针，对这个家系进行单倍型分析，结果显示DM基因座位于APOC2的远端。其他重组个体中DM与远端探针共分离，证实了这一点。本文还报道了未受影响个体中标记物之间的其他重组情况，这些结果支持了DM连锁群的顺序和方向为：端粒-（胰岛素受体基因（INSR）、低密度脂蛋白受体基因（LDLR）、S9）-（S19、B细胞淋巴瘤/白血病-3基因（BCL3）、载脂蛋白C2基因（APOC2））-（肌酸激酶MM基因（CKMM）、DM）-（S22、++++蛋白激酶Cγ基因（PRKCG））-着丝粒。本文提供的数据无法确定DM是在CKMM的近端还是远端。文中讨论了这种探针顺序对产前诊断以及未来旨在分离DM相关致病基因研究的影响。
