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No evidence of linkage disequilibrium between a CAG repeat in the SCA1 gene and schizophrenia in Caucasian and Chinese schizophrenic subjects.

机译:在白种人和中国精神分裂症患者中,没有证据表明SCA1基因中的CAG重复与精神分裂症之间存在连锁不平衡。

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Several recent studies have reported evidence for a schizophrenia locus on chromosome 6p, with a variety of linked markers spanning a approximately 40 cM region between D6S470 and D6S291. However because of the wide region implicated and the difficulty of inferring phenotype from genotype in complex disorders, it is difficult to define its location precisely using linkage data. An alternative approach is to search for linkage disequilibrium. On chromosome 6p, allelic association with a (CAG)29 allele of a triplet repeat marker in the SCA1 gene has been reported, and we have attempted to replicate this finding using a Caucasian case-control sample of 211 affected subjects and 204 controls, and a Han Chinese sample of 100 affected family trios. In the case-control sample, the frequency of the (CAG)29 allele was similar in cases and controls (35%), and no other alleles provided evidence for allelic association. Likewise, there was no evidence for preferential transmission of the (CAG)29 allele to affected offspring in the Chinese sample, although a different allele, (CAG)26, was more often transmitted to the affected offspring. However this data did not reach statistical significance (P = 0.1). We conclude that our data does not support the notion that there is a locus for schizophrenia close to the SCA1 gene. However, since linkage disequilibrium will vary between distinct populations, we cannot exclude this possibility.
机译:最近的一些研究报道了在6p染色体上存在精神分裂症基因座的证据,其中各种连锁标记跨越D6S470和D6S291之间的大约40 cM区域。然而,由于涉及的范围广,并且难以从复杂疾病的基因型推断表型,因此难以使用连锁数据精确地确定其位置。另一种方法是寻找连锁不平衡。在6p号染色体上,已经报道了与SCA1基因中三联体重复标记的(CAG)29个等位基因相关的等位基因,我们试图用211名受影响受试者和204名对照的白种人病例对照样本来复制这一发现。汉人样本中的100个受影响的家庭三重奏。在病例对照样本中,(CAG)29等位基因的频率在病例和对照中相似(35%),并且没有其他等位基因为等位基因关联提供证据。同样,在中国样品中也没有证据表明(CAG)29等位基因优先传播给受影响的后代,尽管不同的等位基因(CAG)26更常传播给受影响的后代。但是,该数据未达到统计学意义(P = 0.1)。我们得出的结论是,我们的数据不支持以下观点:精神分裂症的病源靠近SCA1基因。但是,由于不同群体之间的联系不平衡会有所不同,因此我们不能排除这种可能性。

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