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通过ets-2多态性鉴定的新生平衡t(21q21q)的母系起源

Maternal origin of a de novo balanced t(21q21q) identified by ets-2 polymorphism.

作者信息

Créau-Goldberg N, Gegonne A, Delabar J, Cochet C, Cabanis M O, Stehelin D, Turleau C, de Grouchy J

出版信息

Hum Genet. 1987 Aug;76(4):396-8. doi: 10.1007/BF00272452.

DOI:10.1007/BF00272452
PMID:2886422
Abstract

Molecular investigations were done in a woman with a de novo balanced t(21q21q) discovered because of the birth of a trisomic 21 baby. Polymorphisms detected with probe ets-2 after Msp I digestion showed that both chromosomes 21 involved in the rearrangement were of maternal origin. The most likely hypothesis is that of a disomic 21 oocyte fertilized by a nullisomic 21 sperm.

摘要

对一名因21三体婴儿出生而发现新发平衡t(21q21q)的女性进行了分子研究。经Msp I消化后用探针ets-2检测到的多态性表明，参与重排的两条21号染色体均来自母亲。最可能的假说是，一个二体21号卵母细胞被一个单体21号精子受精。

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本文引用的文献

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Habitual abortion and translocation (22q;22q): unexpected transmission from a mother to her phenotypically normal daughter.习惯性流产与易位（22号染色体长臂；22号染色体长臂）：一位母亲向其表型正常女儿的意外遗传传递。
Clin Genet. 1980 Dec;18(6):456-61. doi: 10.1111/j.1399-0004.1980.tb01794.x.
2
The chromosome constitution of 1000 human spermatozoa.1000个人类精子的染色体组成。
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3
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity.一种将DNA限制性内切酶片段放射性标记至高比活度的技术。
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Mol Cytogenet. 2022 Feb 17;15(1):5. doi: 10.1186/s13039-022-00585-2.
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Confirmation of Paternity despite Three Genetic Incompatibilities at Chromosome 2.尽管在染色体 2 上存在三种遗传不相容性，但仍可确认亲子关系。
Genes (Basel). 2021 Jan 4;12(1):62. doi: 10.3390/genes12010062.
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Interpretation of Autosomal Recessive Kidney Diseases With "Presumed Homozygous" Pathogenic Variants Should Consider Technical Pitfalls.对具有“推定纯合”致病性变异的常染色体隐性遗传性肾脏疾病的解读应考虑技术陷阱。
Front Pediatr. 2020 Apr 17;8:165. doi: 10.3389/fped.2020.00165. eCollection 2020.
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Characterization of Prevalence and Health Consequences of Uniparental Disomy in Four Million Individuals from the General Population.在一般人群的四百万个体中，对单亲二体性的流行率和健康后果进行描述。
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