JOURNAL OF HUMAN GENETICS 54(5) 253-260 2009年5月 [査読有り]
The completion of the human genome project has enabled researchers to characterize the breakpoints for various chromosomal structural abnormalities including deletions, duplications or translocations. This in turn has shed new light on the molecul...
Chromosomal aberrations have been thought to be random events. However, recent findings introduce a new paradigm in which certain DNA segments have the potential to adopt unusual conformations that lead to genomic instability and nonrandom chromos...
AMERICAN JOURNAL OF HUMAN GENETICS 84(1) 14-20 2009年1月 [査読有り]
Aneuploidy, a chromosomal numerical abnormality in the conceptus or fetus, occurs in at least 5% of all pregnancies and is the leading cause of early pregnancy loss in humans. Accumulating evidence now suggests that the correct segregation of chro...
HUMAN MOLECULAR GENETICS 17(8) 1184-1191 2008年4月 [査読有り]
Regions containing palindromic sequence are known to be susceptible to genomic rearrangement in prokaryotes and eukaryotes. Palindromic AT-rich repeats (PATRR) are hypervariable in the human genome, manifesting size polymorphisms and a propensity ...
FERTILITY AND STERILITY 88(5) 1446-1448 2007年11月 [査読有り]
We analyzed de novo constitutional t(11;22) translocation frequency in sperm derived from normal healthy males as a function of the age of the sperm donors (from 25 to 51). Translocation-specific polymerase chain reaction demonstrated no age-depen...