UNIPARENTAL DISOMY REVISITED - THE 1ST 12 YEARS
UNIPARENTAL DISOMY REVISITED - THE 1ST 12 YEARS
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DOI：
10.1002/ajmg.1320460613
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发表时间：
1993-07-01
期刊：
影响因子：
--
通讯作者：
ENGEL, E
中科院分区：
文献类型：
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作者：
ENGEL, E
单亲二体性 (UPD) 是一对后代染色体仅来自一个亲本的特殊衍生，可能与正常或异常发育相容，并且可能是由配子互补、三体性染色体丢失或单体重复（有或没有残留嵌合体）和体细胞重组引起的。在等二倍体中，单亲对是同一染色体 DNA 模板的重复，并通过降低纯合性而导致隐性遗传病的风险增加。在异二体性中，该对仍然是杂合的，由 2 个非重组同源片段组成。但同二体和异二体也可能导致基因组印记的破坏，这些基因组印记是某些对生长和发育至关重要的母本和父本基因差异表达所需的。纯 UPD 保留了整倍性，并且当有害时，最好将其视为基因组质量失衡，因为亲本同源贡献的对称过量和损失影响接合性和印记内容。对 1992 年春季之前报道的 UPD 实例进行了回顾，并描述了它们的有害影响，因为它们通过改变印记过程、模仿缺失、产生隐性病症或促进恶性细胞生长来实现致死或发病。 (C) 1993 Wiley-Liss, Inc.
Uniparental disomy (UPD), the exceptional derivation of a pair of the offspring chromosomes from one parent only, may be compatible with normal or abnormal development and can result from gamete complementation, chromosome loss in trisomy, or duplication in monosomy (with or without residual mosaicism) and somatic recombination. In isodisomy, the uniparental pair is a duplicate of a same chromosome DNA template and causes an increased risk of recessive disorder by reduction to homozygosity. In heterodisomy, the pair remains heterozygous, made up of 2 non-recombinant homologous segments. But both iso- and heterodisomy may also cause disruption of the genomic imprints needed for differential expression of some maternal and paternal genes crucial to growth and development. Pure UPD preserves euploidy and, when harmful, is best regarded as a genomic qualitative imbalance by symmetrical excess and loss of parental homologous contribution affecting zygosity and imprint content. Instances of UPD reported till the spring 1992 are reviewed and their deleterious effects are described as they carried out lethality or morbidity by altering imprinting processes, mimicking deletions, generating recessive disorders, or prompting malignant cellular growth. (C) 1993 Wiley-Liss, Inc.