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| NONDISJUNCTION OF CHROMOSOME-21 IN MATERNAL MEIOSIS-I - EVIDENCE FOR A MATERNAL AGE-DEPENDENT MECHANISM INVOLVING REDUCED RECOMBINATION |
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| Author(s): SHERMAN SL, PETERSEN MB, FREEMAN SB, HERSEY J, PETTAY D, TAFT L, FRANTZEN M, MIKKELSEN M, HASSOLD TJ |
| Source: HUMAN MOLECULAR GENETICS Volume: 3 Issue: 9 Pages: 1529-1535 Published: SEP 1994 |
| Times Cited: 104 References: 31 |
| Abstract: Over 300 cases of trisomy 21 were analyzed to characterize the causes of maternal non-disjunction and to evaluate the basis for maternal age-dependent trisomy 21. We confirmed the observation that recombination along 21q is reduced among non-disjoined chromosomes 21 and further demonstrated that the alterations in recombination are restricted to meiosis I origin. Analysis of the crossover distribution indicates that reduction in recombination is not due simply to failure of pairing and/or absence of recombination in a proportion of cases. Instead, we observed an increase in both zero- and one-exchange events among trisomy 21-generating meioses suggesting that an overall reduction in recombination may be the underlying cause of non-disjunction. Lastly, we observed an age-related reduction in recombination among the meiosis I cases, with older women having less recombination along 21q than younger women. Thus, reduced genetic recombination may be responsible, at least in part, for the association between advancing maternal age and trisomy 21. |
| Document Type: Article |
| Language: English |
| Reprint Address: SHERMAN, SL (reprint author), EMORY UNIV, SCH MED, DEPT MOLEC & MED GENET, 1462 CLIFTON RD, ATLANTA, GA 30322 USA |
Addresses:
1. JF KENNEDY INST, DANISH CTR HUMAN GENOME RES, GLOSTRUP, DENMARK
2. CASE WESTERN RESERVE UNIV, SCH MED, DEPT GENET, CLEVELAND, OH 44106 USA
3. CASE WESTERN RESERVE UNIV, SCH MED, CTR HUMAN GENET, CLEVELAND, OH 44106 USA |
| Publisher: OXFORD UNIV PRESS UNITED KINGDOM, WALTON ST JOURNALS DEPT, OXFORD, ENGLAND OX2 6DP |
| Subject Category: Biochemistry & Molecular Biology; Genetics & Heredity |
| IDS Number: PJ381 |
| ISSN: 0964-6906 |
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