Wyman A R, White R
Proc Natl Acad Sci U S A. 1980 Nov;77(11):6754-8. doi: 10.1073/pnas.77.11.6754.
A locus in the human genome, not associated with any specific gene, has been found to be a site of restriction fragment length polymorphism. The polymorphism was found by hybridizing a 16-kilobase-pair segment of single-copy human DNA, selected from the human genome library cloned in phage lambda CH4A, to a Southern transfer of total human DNA digested with EcoRI. DNAs from a number of individuals from within Mormon pedigrees as well as random individuals have been examined. The locus is highly variable, with at least eight alleles present, homozygotes accounting for less than 25% of the individuals examined. The polymorphism appears to be the result of DNA rearrangements rather than base-pair substitutions or modifications. Examination of the DNA from seven members of a family revealed fragment lengths that are consistent with their inheritance as Mendelian alleles through three generations.
在人类基因组中，发现了一个与任何特定基因均无关联的位点，该位点是一个限制性片段长度多态性位点。通过将从噬菌体λCH4A克隆的人类基因组文库中选取的一段16千碱基对的单拷贝人类DNA片段，与经EcoRI消化的总人类DNA的Southern转移膜进行杂交，发现了这种多态性。已经检测了来自摩门教谱系内的一些个体以及随机个体的DNA。该位点高度可变，至少存在八个等位基因，纯合子占所检测个体的比例不到25%。这种多态性似乎是DNA重排的结果，而非碱基对替换或修饰的结果。对一个家族的七名成员的DNA进行检测，发现片段长度与它们作为孟德尔等位基因在三代中的遗传情况相符。
