Jaarola M, Martin R H, Ashley T
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.
Am J Hum Genet. 1998 Jul;63(1):218-24. doi: 10.1086/301900.
Crossover within a pericentric inversion produces reciprocal recombinant chromosomes that are duplicated/deficient for all chromatin distal to the breakpoints. In view of this fact, a new technique is presented for estimating the frequency of recombination within pericentric inversions. YAC probes were selected from within the q- and p-arm flanking regions of two human inversions, and two-color FISH analysis was performed on sperm from heterozygous inversion carriers. A total of 6,006 sperm were analyzed for chromosome 1 inversion (p31q12), and 3,168 were analyzed for chromosome 8 inversion (p23q22). Both inversions displayed suppression of crossing-over, although the amount of suppression differed between the two inversions. The recombination frequency of 13.1% recorded for chromosome 8 inversion was similar to the frequency of 11.4% previously estimated by the human/hamster-fusion method. For chromosome 1 inversion, the recombination frequency of 0. 4% reported here was below the limits of detection of the fusion technique. The simplicity of the FISH technique and the ease of scoring facilitate analysis of a sample-population size much larger than previously had been possible.
臂间倒位内的交换会产生相互重组的染色体，这些染色体对于断点远端的所有染色质而言都是重复/缺失的。鉴于这一事实，本文提出了一种新技术来估计臂间倒位内的重组频率。从两个人类倒位的q臂和p臂侧翼区域内选择YAC探针，并对杂合倒位携带者的精子进行双色荧光原位杂交分析。总共对6006个精子进行了1号染色体倒位（p31q12）分析，对3168个精子进行了8号染色体倒位（p23q22）分析。尽管两种倒位之间的抑制程度不同，但两种倒位均表现出交叉抑制。8号染色体倒位记录的13.1%的重组频率与先前通过人/仓鼠融合法估计的11.4%的频率相似。对于1号染色体倒位，此处报告的0.4%的重组频率低于融合技术的检测极限。荧光原位杂交技术的简单性和评分的便利性有助于分析比以前可能的样本群体规模大得多的样本。
