The Study of the Association between Genotype and Phenotypic Manifestations of the Huntington's Chorea Pathogenesis

N. V. Gryshchenko; A. M. Kucherenko; E. I. Patscun; L. A. Livshits

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The Study of the Association between Genotype and Phenotypic Manifestations of the Huntington's Chorea Pathogenesis

机译：亨廷顿舞蹈病发病机制的基因型与表型表现之间的关联研究

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Direct molecular-genetic analysis of the region containing CAG and CCG repeats of the IT15 gene from 37 patients with the clinical diagnosis of Huntington's chorea was carried out. The allele with the expansion of CAG repeats in the slate of heterozygosity was found in 33 patients; DNA analysis did not confirm a clinical diagnosis in four cases. Twenty probable asymptomatic carriers were examined; 11 of them inherited a mutant chromosome. A disequilibrium in the linkage between the (CGG)_(10) allele and the alleles with the expansion of CAG repeats in the IT15 gene in a group of patients from Ukraine was found. Significant differences in character of instability of CAG repeats that depends on paternal or maternal inheritance were revealed. The genetic factors that are associated with age variability of onset of the disease were studied.

机译：对临床诊断为亨廷顿舞蹈病的37例患者的IT15基因的包含CAG和CCG重复序列的区域进行了直接分子遗传学分析。在33例患者中发现了杂合子板上带有CAG重复序列的等位基因。 DNA分析未证实4例临床诊断。检查了二十种可能的无症状携带者。他们中的11人遗传了一个突变染色体。在一群来自乌克兰的患者中，发现（CGG）_（10）等位基因与IT15基因中CAG重复序列扩展的等位基因之间的连锁不平衡。揭示了取决于父亲或母亲遗传的CAG重复序列不稳定性的显着差异。研究了与疾病发作的年龄变异相关的遗传因素。

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《Cytology and genetics》 |2009年第3期|183-187|共5页
作者
N. V. Gryshchenko; A. M. Kucherenko; E. I. Patscun; L. A. Livshits;
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Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, vul. Akademika Zabolotnogo 150, Kyiv, 03680 Ukraine;

Taras Shevchenko National University of Kyiv, vul. Volodymyrska 64, Kyiv, 01033 Ukraine;

Institute of Hereditary Pathology, Academy of Medical Sciences of Ukraine, vul. Lysenko 31-A, Lviv, 79000 Ukraine;

Institute of Molecular Biology and Genetics, National Academy of Sciences of Ukraine, vul. Akademika Zabolotnogo 150, Kyiv, 03680 Ukraine;

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7. “The study of the association between genotype and phenotypic manifestations of the Huntington’s chorea pathogenesis” [O] . N. V. Gryshchenko, A. M. Kucherenko, E. I. Patscun, 2009

机译：“亨廷顿霍乱发病机制基因型与表型表现的关联研究”

The Study of the Association between Genotype and Phenotypic Manifestations of the Huntington's Chorea Pathogenesis

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