Analysis of recombination along chromosome 21 during human female pachytene stage Journal Article


Authors: Robles, I.; Roig, I.; Garcia, R.; Brieño, M.; Martin, M.; Barbero, J. L.; Cabero, L. I.; Caldés, M. G.
Article Title: Analysis of recombination along chromosome 21 during human female pachytene stage
Abstract: It is accepted that recombination errors during human female meiotic prophase have some influence on the origin of trisomy 21. A total of 335 oocytes from four euploid fetuses were analysed by immunofluorescence and fluorescence in-situ hybridization in order to assess the recombination nodules along chromosome 21. Results based on the analysis of recombination points on the bivalent 21 during human female meiosis showed that both number [none (3.70%), one (79.01%) and two (17.29%)] and distribution (always positioned interstitially on the q-arm) are different in males, ensuring that the two homologues more efficiently remain together until anaphase I. Therefore, the mainly maternal origin of trisomy 21 appears not be linked to the first stages of oocyte development during fetal life, and this leads to the suggestion that the influence of environmental factors on the segregation of chromosome 21 homologues in later meiotic stages could have a significant role in the predominant maternal origin of trisomy 21.
Keywords: controlled study; human cell; case report; oocyte; pachytene; meiosis; homologous recombination; in situ hybridization, fluorescence; immunofluorescence; fluorescent antibody technique; fluorescence in situ hybridization; genetic recombination; recombination, genetic; fetus; environmental factor; chromosome 21; pachytene stage; chromosome segregation; gamete biology; trisomy 21 origin; meiotic prophase i; oocyte development; trisomy 21; chromosomes, human, pair 21
Journal Title: Reproductive BioMedicine Online
Volume: 18
Issue: 6
ISSN: 1472-6483
Publisher: Reproductive Healthcare Ltd  
Date Published: 2009-06-01
Start Page: 784
End Page: 794
Language: English
DOI: 10.1016/s1472-6483(10)60027-2
PUBMED: 19490782
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 5" - "Export Date: 30 November 2010" - "Art. No.: 3709" - "CODEN: RBOEA" - "Source: Scopus"
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