Sinkus Melissa L, Lee Michael J, Gault Judith, Logel Judith, Short Margaret, Freedman Robert, Christian Susan L, Lyon Jennifer, Leonard Sherry
Department of Psychiatry, University of Colorado at Denver, Denver, CO 80045, USA.
Brain Res. 2009 Sep 29;1291:1-11. doi: 10.1016/j.brainres.2009.07.041. Epub 2009 Jul 23.
Multiple genetic linkage studies support the hypothesis that the 15q13-14 chromosomal region contributes to the etiology of schizophrenia. Among the putative candidate genes in this area are the alpha7 nicotinic acetylcholine receptor gene (CHRNA7) and its partial duplication, CHRFAM7A. A large chromosomal segment including the CHRFAM7A gene locus, but not the CHRNA7 locus, is deleted in some individuals. The CHRFAM7A gene contains a polymorphism consisting of a 2 base pair (2 bp) deletion at position 497-498 bp of exon 6. We employed PCR-based methods to quantify the copy number of CHRFAM7A and the presence of the 2 bp polymorphism in a large, multi-ethnic population. The 2 bp polymorphism was associated with schizophrenia in African Americans (genotype p=0.005, allele p=0.015), and in Caucasians (genotype p=0.015, allele p=0.009). We conclude that the presence of the 2 bp polymorphism at the CHRFAM7A locus may have a functional significance in schizophrenia.
15q13 - 14染色体区域与精神分裂症的病因有关。该区域假定的候选基因包括α7烟碱型乙酰胆碱受体基因（CHRNA7）及其部分重复基因CHRFAM7A。在一些个体中，一个包含CHRFAM7A基因座但不包含CHRNA7基因座的大染色体片段缺失。CHRFAM7A基因包含一种多态性，即外显子6第497 - 498碱基对处有2个碱基对（2 bp）的缺失。我们采用基于聚合酶链反应（PCR）的方法，对一个大型多民族人群中CHRFAM7A的拷贝数和2 bp多态性的存在情况进行定量分析。这种2 bp多态性在非裔美国人（基因型p = 0.005，等位基因p = 0.015）和白种人（基因型p = 0.015，等位基因p = 0.009）中与精神分裂症相关。我们得出结论，CHRFAM7A基因座处2 bp多态性的存在可能在精神分裂症中具有功能意义。
