Lothe R A, Gedde-Dahl T, Olaisen B, Bakker E, Pearson P
Department of Genetics, Norwegian Radium Hospital, Oslo.
Ann Hum Genet. 1986 Oct;50(4):361-7. doi: 10.1111/j.1469-1809.1986.tb01757.x.
The genomic DNA-probe L2.30 was used to assign D2S1 to 2p23-pter by in situ hybridization. The RFLP revealed by BglII was then used for linkage studies in the Oslo-NHIK families segregating for the acid phosphatase ACP1 protein polymorphism. Evidence for very close linkage was found by a lod score of +17.17 at recombination fraction theta = 0.01. By this close linkage 92 informative meioses could be inferred from the families and with only a single crossover. The upper probability limit to the recombination fraction is 0.06 according to the HGM 8 criterion. No association between ACP1 alleles and D2S1 BglII alleles was found. The Norwegian gene frequencies for D2S1 were A1 (9.0 kb) = 0.65 and A2 (6.3 kb) = 0.35.
基因组DNA探针L2.30通过原位杂交用于将D2S1定位于2p23 - pter。然后,由BglII揭示的限制性片段长度多态性(RFLP)用于在奥斯陆 - NHIK家族中进行连锁研究,这些家族正在分离酸性磷酸酶ACP1蛋白多态性。在重组分数θ = 0.01时,通过对数优势(lod)分数为 +17.17发现了非常紧密连锁的证据。通过这种紧密连锁,可以从家族中推断出92个信息性减数分裂,且只有一次交换。根据HGM 8标准,重组分数的上限概率为0.06。未发现ACP1等位基因与D2S1 BglII等位基因之间存在关联。D2S1在挪威的基因频率为A1(9.0 kb)= 0.65和A2(6.3 kb)= 0.35。