正常染色体和亨廷顿舞蹈病（HD）染色体中，与HD基因CAG三联体重复序列相邻的CCG多态性区域的序列分析。
Sequence analysis of the CCG polymorphic region adjacent to the CAG triplet repeat of the HD gene in normal and HD chromosomes.
作者信息
Pêcheux C, Mouret J F, Dürr A, Agid Y, Feingold J, Brice A, Dodé C, Kaplan J C
机构信息
Laboratoire de Biochimie Génétique, CHU Cochin Port-Royal, Université René Descartes Paris V, France.
出版信息
J Med Genet. 1995 May;32(5):399-400. doi: 10.1136/jmg.32.5.399.
The CAG expansion responsible for Huntington's disease (HD) is followed by an adjacent polymorphic CCG repeat region which may interfere with a PCR based diagnosis. We have sequenced this region in 52 unrelated HD patients, from both normal and HD chromosomes. Fifty percent of the normal alleles were (CCG)7(CCT)2, 48% (CCG)10(CCT)2, and 2% (CCG)7(CCT)3. In contrast (CCG)7(CCT)2 was found in 85% of the HD alleles which represents significant linkage disequilibrium with the HD mutation.
导致亨廷顿舞蹈症（HD）的CAG重复序列之后是一个相邻的多态性CCG重复区域，该区域可能会干扰基于聚合酶链反应（PCR）的诊断。我们对52名无关的HD患者正常和HD染色体上的该区域进行了测序。正常等位基因中50%为（CCG）7（CCT）2，48%为（CCG）10（CCT）2，2%为（CCG）7（CCT）3。相比之下，85%的HD等位基因中发现了（CCG）7（CCT）2，这表明其与HD突变存在显著的连锁不平衡。
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