作者
Marcus Danielsson, Jonatan Halvardson, Hanna Davies, Behrooz Torabi Moghadam, Jonas Mattisson, Edyta Rychlicka-Buniowska, Janusz Jaszczyński, Julia Heintz, Lars Lannfelt, Vilmantas Giedraitis, Martin Ingelsson, Jan P Dumanski, Lars A Forsberg
发表日期
2020/3
期刊
European Journal of Human Genetics
卷号
28
期号
3
页码范围
349-357
出版商
Springer International Publishing
简介
Mosaic loss of chromosome Y (LOY) is the most common somatic genetic aberration and is associated with increased risk for all-cause mortality, various forms of cancer and Alzheimer’s disease, as well as other common human diseases. By tracking LOY frequencies in subjects from which blood samples have been serially collected up to five times during up to 22 years, we observed a pronounced intra-individual variation of changes in the frequency of LOY within individual men over time. We observed that in some individuals the frequency of LOY in blood clearly progressed over time and that in other men, the frequency was constant or showed other types of longitudinal development. The predominant method used for estimating LOY is calculation of the median Log R Ratio of probes located in the male specific part of chromosome Y (mLRRY) from intensity data generated by SNP-arrays, which is difficult to …
引用总数
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