Krndija D, Savić D, Mladenović J, Rakocević-Stojanović V, Apostolski S, Todorović S, Romac S
Faculty of Biology, University of Belgrade, Belgrade, Serbia and Montenegro.
Acta Neurol Scand. 2005 Apr;111(4):274-7. doi: 10.1111/j.1600-0404.2005.00402.x.
Analysis of the CTG-repeat number and three biallelic markers, Alu(+/-), HinfI(+/-), and TaqI(+/-), in the DMPK gene in healthy and myotonic dystrophy type 1 (DM1) Serbian individuals. Also, the consideration of haplotypes in the light of the proposed models of CTG-repeat evolution and origin of the DM1 mutation.
Markers were analyzed by PCR and haplotypes were obtained on 203 unrelated normal chromosomes and 24 unrelated DM1 chromosomes.
A strong linkage disequilibrium was detected between the three biallelic markers alone (P <0.0001) and between distinct CTG-repeat size classes and reconstructed haplotypes. Greater than 98% of normal chromosomes contain (+++) and (- - -) haplotypes. The (+++) haplotype is the most common, while the (CTG)(9-17) are the most frequent alleles. We found a complete association of (+++) haplotype with (CTG)(> or =18) and mutated alleles.
(CTG)(9-17)/(+++) haplotype is the ancestral haplotype and DM1 mutation occurred on (CTG)(18-35)/+++ chromosome.
分析健康塞尔维亚人和1型强直性肌营养不良症（DM1）患者的DMPK基因中的CTG重复序列数量以及三个双等位基因标记Alu(+/-)、HinfI(+/-)和TaqI(+/-)。同时，根据提出的CTG重复序列进化模型和DM1突变起源来考虑单倍型。
通过聚合酶链反应（PCR）分析标记，并在203条无关的正常染色体和24条无关的DM1染色体上获得单倍型。
单独的三个双等位基因标记之间（P <0.0001）以及不同的CTG重复序列大小类别与重建的单倍型之间检测到强烈的连锁不平衡。超过98%的正常染色体包含（+++）和（---）单倍型。（+++）单倍型最为常见，而（CTG）(9 - 17)是最常见的等位基因。我们发现（+++）单倍型与（CTG）（≥18）及突变等位基因完全相关。
（CTG）(9 - 17)/（+++）单倍型是祖先单倍型，DM1突变发生在（CTG）(18 - 35)/+++染色体上。
