Bufton L, Bruns G A, Magenis R E, Tomar D, Shaw D, Brook D, Litt M
Am J Hum Genet. 1986 Apr;38(4):447-60.
We have discovered and characterized a compound polymorphic locus on chromosome 19, defined by an arbitrary genomic DNA segment cloned into a cosmid vector. Four different restriction fragment length polymorphisms with minor allele frequencies equal to or greater than 10% are revealed by Southern hybridization of subclones of cosmid 1-13 with TaqI, MspI, BamHI, and HindIII digests of human DNAs. Seventy-two percent of unrelated individuals are heterozygous at one or more loci, and seven of the 24 possible haplotypes occur with frequencies of 3%-38%. Using a somatic cell hybrid panel, we have mapped this locus to 19p13.2----19q13.3, whereas in situ hybridization suggests the probe is on 19p. Taken together, these results suggest localization to 19p13.2----19cen. The locus revealed by probes from cosmid 1-13 has been designated D19S11.
我们在19号染色体上发现并鉴定了一个复合多态性位点,该位点由克隆到黏粒载体中的一个任意基因组DNA片段定义。通过用人类DNA的TaqI、MspI、BamHI和HindIII酶切产物对黏粒1-13的亚克隆进行Southern杂交,揭示了四个不同的限制性片段长度多态性,其次要等位基因频率等于或大于10%。72%的无关个体在一个或多个位点是杂合的,24种可能的单倍型中有7种出现频率为3%-38%。使用体细胞杂种板,我们已将该位点定位到19p13.2----19q13.3,而原位杂交表明探针位于19p上。综合这些结果表明该位点定位于19p13.2----19cen。由黏粒1-13的探针揭示的位点已被命名为D19S11。