Ellegren H
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala.
Anim Genet. 1993 Oct;24(5):367-72. doi: 10.1111/j.1365-2052.1993.tb00342.x.
A computer analysis revealed that the mononucleotide repeat (A)n.(T)n is about five times as common as (CA)n.(GT)n repeats in the porcine genome, with frequency estimates of one every 7kb and 30kb, respectively. Seven mononucleotide repeats with n = 12-25 located close to coding sequences were analysed for polymorphism using polymerase chain reaction (PCR) amplification and polyacrylamide gel electrophoresis. All loci were variable with 3-6 alleles and heterozygosities of 0.26-0.69 based on investigation of 10 unrelated pigs (two wild boars and eight domestic sows). Repeat length correlated with degree of polymorphism. A comparison with (CA)n.(GT)n polymorphisms suggested that the number of repeat units rather than the total length of the repeat region is the common denominator that governs polymorphism at both mono- and dinucleotide repeat loci. (A)n.(T)n polymorphisms allowed linkage mapping of relaxin to chromosome 1, apolipoprotein B to chromosome 3, aminopeptidase N to chromosome 7, arachidonate 12-lipoxygenase to chromosome 12, and follistatin to chromosome 16. The rich abundance of potentially informative (A)n.(T)n repeats will increase the chances of finding a PCR-based marker near any DNA sequence of interest.
计算机分析显示,在猪基因组中,单核苷酸重复序列(A)n.(T)n的出现频率约为(CA)n.(GT)n重复序列的五倍,频率估计分别为每7kb和30kb出现一次。使用聚合酶链反应(PCR)扩增和聚丙烯酰胺凝胶电泳,对靠近编码序列的7个n = 12 - 25的单核苷酸重复序列进行了多态性分析。基于对10头无亲缘关系的猪(2头野猪和8头家猪母猪)的研究,所有位点均具有多态性,有3 - 6个等位基因,杂合度为0.26 - 0.69。重复长度与多态性程度相关。与(CA)n.(GT)n多态性的比较表明,重复单元的数量而非重复区域的总长度是控制单核苷酸和二核苷酸重复位点多态性的共同因素。(A)n.(T)n多态性使得松弛素与1号染色体、载脂蛋白B与3号染色体、氨肽酶N与7号染色体、花生四烯酸12 - 脂氧合酶与12号染色体以及卵泡抑素与16号染色体实现了连锁定位。丰富的潜在信息性(A)n.(T)n重复序列将增加在任何感兴趣的DNA序列附近找到基于PCR的标记的机会。