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| THE MEIOTIC STAGE OF NONDISJUNCTION IN TRISOMY-21 - DETERMINATION BY USING DNA POLYMORPHISMS |
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| Author(s): ANTONARAKIS SE, PETERSEN MB, MCINNIS MG, ADELSBERGER PA, SCHINZEL AA, BINKERT F, PANGALOS C, RAOUL O, SLAUGENHAUPT SA, HAFEZ M, COHEN MM, ROULSON D, SCHWARTZ S, MIKKELSEN M, TRANEBJAERG L, GREENBERG F, HOAR DI, RUDD NL, WARREN AC, METAXOTOU C, BARTSOCAS C, CHAKRAVARTI A |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 50 Issue: 3 Pages: 544-550 Published: MAR 1992 |
| Times Cited: 100 References: 32 |
| Abstract: We have studied DNA polymorphisms at loci in the pericentromeric region on the long arm of chromosome 21 in 200 families with trisomy 21, in order to determine the meiotic origin of nondisjunction. Maintenance of heterozygosity for parental markers in the individual with trisomy 21 was interpreted as resulting from a meiosis I error, while reduction to homozygosity was attributed to a meiosis II error. Nondisjunction was paternal in 9 cases and was maternal in 188 cases, as reported earlier. Among the 188 maternal cases, nondisjunction occurred in meiosis I in 128 cases and in meiosis II in 38 cases; in 22 cases the DNA markers used were uninformative. Therefore meiosis I was responsible for 77.1% and meiosis II for 22.9% of maternal nondisjunction. Among the 9 paternal nondisjunction cases the error occurred in meiosis I in 2 cases (22.2%) and in meiosis II in 7 (77.8%) cases. Since there was no significant difference in the distribution of maternal ages between maternal I error versus maternal II error, it is unlikely that an error at a particular meiotic stage contributes significantly to the increasing incidence of Down syndrome with advancing maternal age. Although the DNA polymorphisms used were at loci which map close to the centromere, it is likely that rare errors in meiotic-origin assignments may have occurred because of a small number of crossovers between the markers and the centromere. Analysis of these polymorphisms may provide a more accurate understanding of the meiotic stage of nondisjunction in trisomy 21 than that previously provided by chromosomal heteromorphisms. |
| Document Type: Article |
| Language: English |
| Reprint Address: ANTONARAKIS, SE (reprint author), JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT PEDIAT, CMSC 1003, BALTIMORE, MD 21205 USA |
Addresses:
1. JOHN F KENNEDY INST, GLOSTRUP, DENMARK
2. ALBERTA CHILDRENS PROV GEN HOSP, DEPT PEDIAT, CALGARY, ALBERTA CANADA
3. P & A KYRIAKOU CHILDRENS HOSP, DEPT PEDIAT, ATHENS, GREECE
4. JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT MED, BALTIMORE, MD 21205 USA
5. JOHNS HOPKINS UNIV, SCH MED, CTR MED GENET, DEPT PSYCHIAT, BALTIMORE, MD 21205 USA
6. UNIV MARYLAND, DEPT OBSTET & GYNECOL, DIV HUMAN GENET, BALTIMORE, MD 21201 USA
7. UNIV MARYLAND, DEPT PEDIAT, DIV HUMAN GENET, BALTIMORE, MD 21201 USA
8. UNIV ZURICH, INST MED GENET, CH-8006 ZURICH, SWITZERLAND
9. HOP NECKER ENFANTS MALAD, INST PROGENESE, F-75730 PARIS 15, FRANCE
10. UNIV PITTSBURGH, DEPT HUMAN GENET, PITTSBURGH, PA 15260 USA
11. MANSOURA UNIV, MANSOURA, EGYPT
12. BAYLOR COLL MED, INST MOLEC GENET, HOUSTON, TX 77030 USA
13. BAYLOR COLL MED, DEPT PEDIAT, HOUSTON, TX 77030 USA
14. ALBERTA CHILDRENS PROV GEN HOSP, DEPT MED BIOCHEM, CALGARY, ALBERTA CANADA
15. UNIV ATHENS, SCH MED, DEPT PEDIAT 1, CYTOGENET LAB, ATHENS, GREECE |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: HH974 |
| ISSN: 0002-9297 |
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