在一个没有明显表型障碍的个体中发现了整个3号染色体的父源性单亲等臂染色体。
Paternal uniparental isodisomy of the entire chromosome 3 revealed in a person with no apparent phenotypic disorders.
作者信息
Xiao Peng, Liu Pengyuan, Weber James L, Papasian Christopher J, Recker Robert R, Deng Hong-Wen
机构信息
Department of Biomedical Sciences, School of Medicine, Creighton University, Omaha, Nebraska, USA.
出版信息
Hum Mutat. 2006 Feb;27(2):133-7. doi: 10.1002/humu.20302.
Uniparental disomy (UPD) is a rare genetic abnormality. During a whole genome linkage study we identified a case of paternal uniparental isodisomy 3 serendipitously. This is the first ascertained human paternal UPD for chromosome 3 (UPD3pat). The finding of this paternal UPD case of the entire chromosome 3 with no apparent phenotypic disorders suggests that there are no paternal imprinted genes causing rare genetic disorders on chromosome 3.
单亲二体（UPD）是一种罕见的基因异常。在一项全基因组连锁研究中，我们意外地鉴定出一例父源单亲同二体3。这是首例经确认的人类3号染色体父源单亲二体（UPD3pat）。这例整个3号染色体的父源单亲二体病例未出现明显的表型异常，这表明3号染色体上不存在导致罕见遗传病的父源印记基因。
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