caa a22 4500 397575300 CHVBK 20180308164854.0 cr unu---uuuuu 161202e199606 xx s 000 0 eng 10.1093/hmg/5.6.821 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.6.821 Analysis of Germline Variation at the FMR1 CGG Repeat Shows Variation in the Normal-Premutated Borderline Range [Elektronische Daten] [Etienne Monet, Corinne Chateau, Mark C. Hirst, François Thepot, Agnès Taillandier, Olivier Cibois, Jean-Louis Serre] In order to characterize the dynamics of CGG repeat instability at the fragile X syndrome locus (FMR1 gene), we have used small pool PCR to estimate the mutation rate within germline (sperm) and somatic tissue (leukocytes) of two normal males, one carrying the most common 29 CGG repeats allele, the other carrying a borderline normal—premutated allele of 55 repeats. Large contractions and moderate expansions of the repeat were found in sperm and blood for the 55 repeat allele while almost no variation was found in sperm or blood with the 29 repeat allele. Somatic blood DNA exhibited fewer expansions and contractions than sperm. Contractions were more frequent than expansions, and all the expansions were found in the +4 to +10 repeats range, while most of the contractions were found in the −10 to −30 range, suggesting that a subset of contractions results from a distinct mechanism. These results also suggest that the dynamics of the CGG repeat could be partly due to germline instability within the high normal or premutated ranges. © 1996 Oxford University Press Monet Etienne Centre d'Etudes de Biologie Prénatale SESEP, Université de Versailles-Saint Quentin, Versailles, France aut Chateau Corinne Centre d'Etudes de Biologie Prénatale SESEP, Université de Versailles-Saint Quentin, Versailles, France aut Hirst Mark C. Fragile X Group, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK aut Thepot François Laboratoire de Cytogénétique et de Biologie de la Reproduction, Centre Hospitalier Universitaire d'Amiens, Amiens, France aut Taillandier Agnès Centre d'Etudes de Biologie Prénatale SESEP, Université de Versailles-Saint Quentin, Versailles, France aut Cibois Olivier Centre d'Etudes de Biologie Prénatale SESEP, Université de Versailles-Saint Quentin, Versailles, France aut Serre Jean-Louis Laboratoire de Cytogénétique et Biologie Moléculaire Humaine, Université de Versailles-Saint Quentin, Versailles, France aut Human Molecular Genetics Oxford University Press 5/6(1996-06), 821-825 0964-6906 5:6<821 1996 5 hmg https://doi.org/10.1093/hmg/5.6.821 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.6.821 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Monet Etienne Centre d'Etudes de Biologie Prénatale SESEP, Université de Versailles-Saint Quentin, Versailles, France aut NATIONALLICENCE 700 1- Chateau Corinne Centre d'Etudes de Biologie Prénatale SESEP, Université de Versailles-Saint Quentin, Versailles, France aut NATIONALLICENCE 700 1- Hirst Mark C. Fragile X Group, Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK aut NATIONALLICENCE 700 1- Thepot François Laboratoire de Cytogénétique et de Biologie de la Reproduction, Centre Hospitalier Universitaire d'Amiens, Amiens, France aut NATIONALLICENCE 700 1- Taillandier Agnès Centre d'Etudes de Biologie Prénatale SESEP, Université de Versailles-Saint Quentin, Versailles, France aut NATIONALLICENCE 700 1- Cibois Olivier Centre d'Etudes de Biologie Prénatale SESEP, Université de Versailles-Saint Quentin, Versailles, France aut NATIONALLICENCE 700 1- Serre Jean-Louis Laboratoire de Cytogénétique et Biologie Moléculaire Humaine, Université de Versailles-Saint Quentin, Versailles, France aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/6(1996-06), 821-825 0964-6906 5:6<821 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford