Pinton A, Ducos A, Séguéla A, Berland H M, Darré R, Darré A, Pinton P, Schmitz A, Cribiu E P, Yerle M
ENVT, Laboratoire de Cytogénétique, Toulouse, France.
Chromosome Res. 1998 Aug;6(5):361-6. doi: 10.1023/a:1009244415357.
We report the use of dual-colour chromosome painting to determine the exact nature of certain chromosome rearrangements observed in the pig (Sus scrofa domestica). The chromosomal abnormalities were detected by GTG- and RBG-banding techniques. The initially proposed interpretations were: (1) rcp(6;13)(p1.5;q4.1); (2) rcp(11;16)(p1.4;q1.4); (3) rcp(6;16)(p1.1;q1.1); (4) rcp(13;17)(q4.1;q1.1); (5) rcp(6;14)(q2.7;q2.1); (6) rcp(3;5)(p1.3;q2.3); (7) rcp(2; 14)(q1.3;q2.7); (8) rcp(15;17)(q1.3;q2.1). Hybridizations were carried out with biotin- and digoxigenin-labelled probes obtained by priming authorizing random mismatches polymerase chain reaction (PARM-PCR) amplification of porcine flow-sorted chromosomes. In some cases, i.e. (1), (4), (5), (6), (7) and (8), the fluorescence in situ hybridization (FISH) results allowed confirmation of the interpretations proposed with classical cytogenetic methods. Chromosome painting proved the reciprocity of the translocation in cases (1), (6) and (8), whereas modifications of the formula were proposed for case (2). Primed in situ DNA labelling (PRINS) experiments have also been carried out in case (3) using a primer specific for the centromeres of acrocentric chromosomes (first experiment) or a primer specific for the centromeres of a subset of meta- and submetacentric chromosomes including chromosome 6 (second experiment). It allowed us to demonstrate that the breakpoints occurred in the centromeric region of chromosome 16 and in the p. arm of chromosome 6, just above the centromere.
我们报告了使用双色染色体涂染来确定在猪（家猪）中观察到的某些染色体重排的确切性质。通过GTG和RBG显带技术检测到染色体异常。最初提出的解释为：（1）rcp(6;13)(p1.5;q4.1)；（2）rcp(11;16)(p1.4;q1.4)；（3）rcp(6;16)(p1.1;q1.1)；（4）rcp(13;17)(q4.1;q1.1)；（5）rcp(6;14)(q2.7;q2.1)；（6）rcp(3;5)(p1.3;q2.3)；（7）rcp(2;14)(q1.3;q2.7)；（8）rcp(15;17)(q1.3;q2.1)。使用通过引发允许随机错配的聚合酶链反应（PARM-PCR）扩增猪的流式分选染色体获得的生物素和地高辛标记的探针进行杂交。在某些情况下，即（1）、（4）、（5）、（6）、（7）和（8），荧光原位杂交（FISH）结果证实了经典细胞遗传学方法提出的解释。染色体涂染证明在情况（1）、（6）和（8）中易位是相互的，而对于情况（2）提出了公式的修改。对于情况（3），还使用了针对近端着丝粒染色体着丝粒的引物（第一个实验）或针对包括6号染色体在内的一部分中着丝粒和亚中着丝粒染色体着丝粒的引物（第二个实验）进行了引物原位DNA标记（PRINS）实验。这使我们能够证明断点发生在16号染色体的着丝粒区域和6号染色体p臂上，正好在着丝粒上方。
