139例21三体不分离的亲本来源和减数分裂期。

Annales de genetique Pub Date : 1999-01-01
F Ballesta, R Queralt, D Gómez, E Solsona, M Guitart, M Ezquerra, J Moreno, R Oliva
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引用次数: 0

摘要

通过DNA多态性分析,确定了139例常规21三体唐氏综合征患者及其父母的亲代起源和非分离减数分裂阶段。减数分裂错误为母体的占91.60%,父系的占8.39%。减数分裂I型错误(MMI)占72.41%,减数分裂II型错误(MMII)占27.58%。在父本病例中,45.45%为减数分裂I (PMI), 54.54%为减数分裂II (PMII)。MMI的产妇平均年龄为31.6 +/- 5.3 (+/- SD)岁,MMII的产妇平均年龄为32.3 +/- 6.4岁,PMI的产妇平均年龄为31.4 +/- 4.6岁,PMII的产妇平均年龄为29.5 +/- 2.7岁。在母亲和父亲的错误之间没有观察到显著的统计差异,进一步支持存在恒定的21号染色体非分离错误类型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Parental origin and meiotic stage of non-disjunction in 139 cases of trisomy 21.

The parental origin and the meiotic stage of non-disjunction have been determined in 139 Down syndrome patients with regular trisomy 21 and in their parents through the analysis of DNA polymorphism. The meiotic error is maternal in 91.60% cases and paternal in 8.39% of cases. Of the maternal cases, 72.41% were due to meiosis I errors (MMI) and 27.58% were due to meiosis II errors (MMII). Of the paternal cases, 45.45% were due to meiosis I (PMI) and 54.54% were due to meiosis II (PMII). The mean maternal ages were 31.6 +/- 5.3 (+/- SD) years in errors from MMI, 32.3 +/- 6.4 years in errors from MMII, 31.4 +/- 4.6 years in errors from PMI and 29.5 +/- 2.7 years in errors from PMII. No significant statistical differences were observed between maternal and paternal errors, further supporting the presence of a constant chromosome 21 non-disjunction error type.

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