Michaelovsky E, Frisch A, Rockah R, Peleg L, Magal N, Shohat M, Weizman R
Laboratory of Biochemical Genetics, Felsenstein Medical Research Center, Rabin Medical Center, Petah Tikva, Israel.
Mol Psychiatry. 1999 Jan;4(1):97-9. doi: 10.1038/sj.mp.4000449.
The human serotonin transporter (hSERT) gene is a promising candidate for mediating the genetic susceptibility for various psychiatric conditions such as mood and obsessive-compulsive disorders. Two polymorphic sites in this gene attracted much interest: a VNTR of 17-bp repeats in intron two, and an insertion/deletion in the 5'-flanking promoter region (5-HTT gene-linked polymorphic region-5-HTTLPR) creating a short (S) and a long (L) allele. The 5-HTTLPR polymorphism is situated in a GC-rich region composed of 20-23 bp repeating units. The S and L alleles have 14 and 16 repeat-elements respectively. Positive associations of the 5-HTTLPR polymorphism with mood disorders, anxiety-related personality traits, autism and late-onset Alzheimer's disease have been published, although some non replications were also reported. Here we report a novel allele (termed LJ) in the 5-HTTLPR site. This allele is longer than the L allele by 43 bp, has 18 repeat units and contains two copies of the insertion/deletion sequence arranged in tandem. The LJ allele was found in individuals of Libyan and Tunisian Jewish origin but not in Moroccan or Ashkenazi Jews.
人类血清素转运体（hSERT）基因是介导多种精神疾病（如情绪障碍和强迫症）遗传易感性的一个有前景的候选基因。该基因中的两个多态性位点引起了广泛关注：内含子二中17个碱基对重复序列的可变数目串联重复序列（VNTR），以及5'侧翼启动子区域（5-羟色胺转运体基因连锁多态性区域-5-HTTLPR）中的插入/缺失，产生了短（S）和长（L）两个等位基因。5-HTTLPR多态性位于一个由20 - 23个碱基对重复单元组成的富含GC的区域。S和L等位基因分别有14和16个重复元件。尽管也有一些未能重复的报道，但5-HTTLPR多态性与情绪障碍、焦虑相关人格特质、自闭症和晚发性阿尔茨海默病之间的正相关关系已有报道。在此，我们报告了5-HTTLPR位点的一个新等位基因（称为LJ）。该等位基因比L等位基因长43个碱基对，有18个重复单元，并且包含两个串联排列的插入/缺失序列拷贝。LJ等位基因在利比亚和突尼斯犹太裔个体中被发现，但在摩洛哥或阿什肯纳兹犹太人中未被发现。
