MITOTIC ERRORS IN SOMATIC-CELLS CAUSE TRISOMY-21 IN ABOUT 4.5-PERCENT OF CASES AND ARE NOT ASSOCIATED WITH ADVANCED MATERNAL AGE
MITOTIC ERRORS IN SOMATIC-CELLS CAUSE TRISOMY-21 IN ABOUT 4.5-PERCENT OF CASES AND ARE NOT ASSOCIATED WITH ADVANCED MATERNAL AGE
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DOI：
10.1038/ng0293-146
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发表时间：
1993-02-01
期刊：
影响因子：
30.8
通讯作者：
SCHINZEL, AA
中科院分区：
文献类型：
--
作者：
ANTONARAKIS, SE;AVRAMOPOULOS, D;SCHINZEL, AA
DNA多态性的研究已允许确定的父母和减数分裂起源的额外的21号染色体在家庭与自由三体21。在分析着丝粒周围区域和（为了鉴定重组事件）沿着21号染色体长臂的DNA标记后，识别有丝分裂期间体细胞中的染色体分离错误。有丝分裂错误占游离三体21例的4.5%（11/238）。有丝分裂错误的平均母亲年龄为28.5岁，与高龄母亲无关。重复的21号染色体的亲本来源没有偏好。在这项研究中，43例减数分裂II错误的母亲的平均年龄为34.1岁，是所有类别的染色体分离错误中最高的平均母亲年龄。
The study of DNA polymorphisms has permitted the determination of the parental and meiotic origin of the supernumerary chromosome 21 in families with free trisomy 21. Chromosomal segregation errors in somatic cells during mitosis were recognized after analysis of DNA markers in the pericentromeric region and (in order to identify recombination events) along the long arm of chromosome 21. Mitotic errors accounted for about 4.5% (11 of 238) of free trisomy 21 cases examined. The mean maternal age of mitotic errors was 28.5 years and there was no association with advanced maternal age. There was no preference in the parental origin of the duplicated chromosome 21. The 43 maternal meiosis II errors in this study had a mean maternal age of 34.1 years - the highest mean maternal age of all categories of chromosomal segregation errors.