Direct evidence for suppression of recombination within two pericentric inversions in humans: A new sperm-FISH technique
Direct evidence for suppression of recombination within two pericentric inversions in humans: A new sperm-FISH technique
复制标题
DOI：
10.1086/301900
复制
发表时间：
1998-07-01
影响因子：
9.8
通讯作者：
Ashley, T
中科院分区：
文献类型：
--
作者：
Jaarola, M;Martin, RH;Ashley, T
在中心内反转的交叉产生相互的重组染色体，在断点远端的所有染色质上都是重复的/缺乏的。鉴于这一事实，提出了一种估算近心反转内重组频率的新方法。YAC探针从两个人类逆转录的q臂和p臂侧翼区域内选择，并对杂合逆转录携带者的精子进行双色FISH分析。1号染色体反转（p31q12）共分析了6006个精子，8号染色体反转（p23q22）共分析了3168个精子。两种倒位都表现出交叉交叉的抑制，尽管抑制的量在两种倒位之间有所不同。8号染色体反转的重组频率为13.1%，与先前通过人/仓鼠融合方法估计的11.4%的频率相似。对于1号染色体反转，本文报道的重组频率为0.4%，低于融合技术的检测极限。FISH技术的简单性和评分的便捷性使分析的样本人口规模比以前可能的要大得多。
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.