Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects.
Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects.
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DOI：
10.1007/s00439-008-0603-8
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发表时间：
2009-02
期刊：
影响因子：
5.3
通讯作者：
Sherman SL
中科院分区：
文献类型：
--
作者：
Allen EG;Freeman SB;Druschel C;Hobbs CA;O'Leary LA;Romitti PA;Royle MH;Torfs CP;Sherman SL
我们通过减数分裂错误的起源研究了母体年龄和21号染色体不分离之间的关联。我们分析了两项基于人群的病例对照研究的数据：亚特兰大唐氏综合征项目（1989-1999）和国家唐氏综合征项目（2001-2004）。病例为21三体的活产婴儿，对照为在相同地理区域分娩的无21三体的婴儿。我们招募了1，881个合格病例家庭中的1，215个和2，293个对照中的1，375个。我们报告了四个主要发现。首先，高龄产妇与21号染色体不分离之间的显著关联仅限于卵子中的减数分裂错误;在精子或合子后有丝分裂错误中未观察到这种关联。第二，高龄产妇与减数分裂I（MI）和减数分裂II（MII）显著相关。例如，与对照组的母亲相比，因MI不分离导致的21三体婴儿的母亲在索引病例出生时≥40岁的可能性是20-24岁的8.5倍（95% CI = 5.6-12.9）。在MII中发生不分离的情况下，母亲年龄≥40岁的可能性高15.1倍（95% CI = 8.4-27.3）。第三，MI与MII错误的比率因母亲年龄而异。19岁以下妇女和40岁以上妇女的这一比率较低（分别为2.1和2.3），而中年妇女的这一比率较高（3.6）。最后，我们没有发现外祖母年龄对母亲不分离的风险有影响。这项研究强调了卵子发生过程中高龄产妇和21号染色体不分离之间的复杂联系。
We examined the association between maternal age and chromosome 21 nondisjunction by origin of the meiotic error. We analyzed data from two population-based, case–control studies: Atlanta Down Syndrome Project (1989–1999) and National Down Syndrome Project (2001–2004). Cases were live born infants with trisomy 21 and controls were infants without trisomy 21 delivered in the same geographical regions. We enrolled 1,215 of 1,881 eligible case families and 1,375 of 2,293 controls. We report four primary findings. First, the significant association between advanced maternal age and chromosome 21 nondisjunction was restricted to meiotic errors in the egg; the association was not observed in sperm or in post-zygotic mitotic errors. Second, advanced maternal age was significantly associated with both meiosis I (MI) and meiosis II (MII). For example, compared to mothers of controls, mothers of infants with trisomy 21 due to MI nondisjunction were 8.5 times more likely to be ≥40 years old than 20–24 years old at the birth of the index case (95% CI = 5.6–12.9). Where nondisjunction occurred in MII, mothers were 15.1 times more likely to be ≥40 years (95% CI = 8.4–27.3). Third, the ratio of MI to MII errors differed by maternal age. The ratio was lower among women <19 years of age and those ≥40 years (2.1, 2.3, respectively) and higher in the middle age group (3.6). Lastly, we found no effect of grand-maternal age on the risk for maternal nondisjunction. This study emphasizes the complex association between advanced maternal age and nondisjunction of chromosome 21 during oogenesis.
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DOI：
10.1016/s0003-3995(00)00017-4
发表时间：
2000-01-01
期刊：
ANNALES DE GENETIQUE
影响因子：
--
作者：
Gómez, D;Solsona, E;Caballín, MR
通讯作者：
Caballín, MR
影响因子：
1.9
作者：
AAGESEN, L;GRINSTED, J;MIKKELSEN, M
通讯作者：
MIKKELSEN, M
影响因子：
30.8
作者：
ANTONARAKIS, SE;AVRAMOPOULOS, D;SCHINZEL, AA
通讯作者：
SCHINZEL, AA
祖母高级时代对唐氏综合症的影响。
影响因子：
--
作者：
Malini, SS;Ramachandra, NB
通讯作者：
Ramachandra, NB
影响因子：
5.3
作者：
HASSOLD, T;CHIU, D
通讯作者：
CHIU, D