与意大利和西班牙人群中强直性肌营养不良相关的3'肌酸激酶（M型）多态性
3' creatine kinase (M-type) polymorphisms linked to myotonic dystrophy in Italian and Spanish populations.
作者信息
Gennarelli M, Novelli G, Cobo A, Baiget M, Dallapiccola B
机构信息
Department of Public Health and Cell Biology, IInd University of Rome, Italy.
出版信息
Hum Genet. 1991 Oct;87(6):654-6. doi: 10.1007/BF00201719.
Linkage analysis and haplotype characterization for the allelic system detected at the 3' creatine kinase muscle type (CKMM) locus were carried out in 59 myotonic dystrophy (DM) families from Italy and Spain. A maximum lod score (zmax) of 21.26 at a recombination frequency (theta) of 0.00 was found. No statistically significant linkage disequilibrium was observed between DM and the RFLPs examined. However, a substantial linkage disequilibrium was found between CKMM-TaqI and CKMM-NcoI sites in these two populations.
对来自意大利和西班牙的59个强直性肌营养不良（DM）家系，进行了位于3'肌酸激酶肌肉型（CKMM）基因座检测到的等位基因系统的连锁分析和单倍型特征分析。在重组频率（θ）为0.00时，发现最大对数优势分数（zmax）为21.26。未观察到DM与所检测的限制性片段长度多态性（RFLP）之间存在统计学上显著的连锁不平衡。然而，在这两个人群中，发现CKMM-TaqI和CKMM-NcoI位点之间存在显著的连锁不平衡。
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