Hofker M H, Skraastad M I, Bergen A A, Wapenaar M C, Bakker E, Millington-Ward A, van Ommen G J, Pearson P L
Am J Hum Genet. 1986 Oct;39(4):438-51.
Using a standard technique, 122 single-copy probes were screened for their ability to detect restriction fragment length polymorphisms (RFLPs) in the human genome. The use of a standardized RFLP screening enables the introduction of statistical methods in the analysis of differences in RFLP content between chromosomes and enzymes. RFLPs were detected from panels containing at least 17 unrelated chromosomes, digested with TaqI, MspI, BglII, HindIII, EcoRI, and PstI. Forty autosomal probes, representing a sample of 2,710 base pairs (bp) per haploid genome, were tested, and 24 RFLPs were found. With 82 X-chromosomal probes, 17 RFLPs were found in 6,228 bp per haploid genome. The frequency of X-chromosomal RFLPs is three times less than that of the autosomes; this difference is highly significant (P = less than .001). The frequency of RFLPs revealed by various restriction enzymes and the possibility that the X chromosome is a "low mutation" niche in the human genome are discussed.
运用一种标准技术，对122个单拷贝探针进行筛选，以检测其在人类基因组中检测限制性片段长度多态性（RFLP）的能力。使用标准化的RFLP筛选方法能够在分析染色体与酶之间RFLP含量差异时引入统计方法。从至少包含17条无关染色体的样本中检测RFLP，这些染色体用TaqI、MspI、BglII、HindIII、EcoRI和PstI进行消化。对代表每个单倍体基因组2710个碱基对（bp）样本的40个常染色体探针进行了测试，发现了24个RFLP。对于82个X染色体探针，在每个单倍体基因组6228 bp中发现了17个RFLP。X染色体RFLP的频率比常染色体低三倍；这种差异非常显著（P＜0.001）。讨论了各种限制性酶揭示的RFLP频率以及X染色体在人类基因组中是一个“低突变”区域的可能性。
