Narrowing the localization of the region breakpoint in most frequent Robertsonian translocations.

ABSTRACT: Despite that Robertsonian translocations (ROBs) are the most common chromosomal rearrangements in humans (1/1000 individuals), an exact breakpoint and the molecular mechanisms leading to their formation are still not well known. This is partly due to the fact that Human Genome Project did not provide any map or sequence for the acrocentric short arms. The main aim of our studies was to narrow the breakpoints in de novo arising and in familial cases of the most frequently occurring ROBs, using eight, previously not tested clones derived from 21p. Our results from PCR and FISH analysis showed that only the clones CR382285, CR382287, and a small fragment of CR382332 are retained in the examined ROBs. Moreover, interphase FISH on monochromosomal hybrids verified the orientation of studied clon

SUBMITTER: Jarmuz-Szymczak M 

PROVIDER: S-EPMC4257996 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature