Philibert R A, Horelli-Kuitunen N, Robb A S, Lee Y H, Long R T, Damschroder-Williams P, Martin B M, Brennan M B, Palotie A, Ginns E I
Clinical Neuroscience Branch, National Institute of Mental Health, National Institutes of Health, Bethesda, MD 20892-4405, USA.
Eur J Hum Genet. 1998 Jan;6(1):89-94. doi: 10.1038/sj.ejhg.5200157.
We have systematically isolated and characterized DNA containing large CTG (n > 7) repeats from a human cosmid genomic DNA library. Using a CTG10 probe, more than 100 cosmid clones were identified, and 30 of these have been extensively characterized. The sequenced cosmids contain repeats that are between three and 19 perfect units (average 10 perfect repeats). The cosmids map to at least 12 different chromosomes. Sequence analysis of flanking regions suggests that more than one third of the repeats occur in exons, and many share strong sequence identity with databank sequences, including the gene involved in dentatorubral pallidoluysian atrophy (DRPLA). Genotyping of human DNA samples demonstrates that more than half of the repeats are polymorphic. This and similar collections of clones containing trinucleotide repeats should aid in the identification of genes that may contain expansions of trinucleotide repeats involved in human disease.
我们从一个人类黏粒基因组DNA文库中系统地分离并鉴定了含有大CTG（n>7）重复序列的DNA。使用CTG10探针，鉴定出了100多个黏粒克隆，其中30个已得到广泛表征。测序的黏粒包含3至19个完美单元（平均10个完美重复）的重复序列。这些黏粒定位于至少12条不同的染色体上。侧翼区域的序列分析表明，超过三分之一的重复序列出现在外显子中，并且许多与数据库序列具有很强的序列同一性，包括与齿状核红核苍白球路易体萎缩症（DRPLA）相关的基因。对人类DNA样本进行基因分型表明，超过一半的重复序列是多态性的。这种以及类似的包含三核苷酸重复序列的克隆集合，应该有助于鉴定可能包含与人类疾病相关的三核苷酸重复序列扩增的基因。
