Luke S, Aggarwal G, Stetka D G, Verma R S
Division of Genetics, Long Island College Hospital, Brooklyn, NY 11201.
Chromosome Res. 1994 Jan;2(1):73-5. doi: 10.1007/BF01539457.
The centromeric heterochromatin of a Robertsonian translocation with t(13q14q), thought to be monocentric by conventional staining methods, was found to be dicentric using molecular techniques. The breakpoints were confined within the alphoid DNA subfamilies and fusion resulted in a compound centromere. The fragile nature of alphoid DNA sequences during Robertsonian translocation has opened new avenues in understanding other chromosomal aberrations involving centric fusion.
通过传统染色方法认为是单着丝粒的罗伯逊易位t(13q14q)的着丝粒异染色质,使用分子技术发现是双着丝粒的。断点局限于α卫星DNA亚家族内,融合导致形成复合着丝粒。罗伯逊易位期间α卫星DNA序列的脆弱性质为理解其他涉及着丝粒融合的染色体畸变开辟了新途径。