| Autor: |
Anirban, Ray, Tiffany Rene, Oliver, Pinku, Halder, Upamanyu, Pal, Sumantra, Sarkar, Supratim, Dutta, Sujay, Ghosh |
| Rok vydání: |
2017 |
| Předmět: |
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| Zdroj: |
American journal of medical genetics. Part A. 176(11) |
| ISSN: |
1552-4833 |
| Popis: |
Consanguineous marriage was examined as a risk factor for Down syndrome birth. We genotyped Down syndrome family trios using short tandem repeat markers on 21q-to interpret the parental and meiotic stage of origin of errors as well as to record recombination profile along long arm of chromosome 21. We then compared nonconsanguineous (N = 811) group with-the consanguineous (N =157) marriages. We report for the first time that consanguineous marriage is associated with an increased risk for nondisjunction of chromosome 21 in oocytes-during the second meiotic division. We observed the absence of recombination more frequently in younger mothers in nonconsanguineous meiosis I cases. This was in contrast to an equal distribution of nonrecombinant cases across the age categories in the meiosis I consanguineous group. Moreover, the non-consanguineous group exhibited preferential telomeric recombination in meiosis I error among younger women and centromeric recombination in meiosis II errors in older women. In contrast, the consanguineous group exhibited medially placed recombination events in both meiosis I and meiosis II nondisjunction errors. Additionally, we recorded reduced maternal age at conception in the-consanguineous group. These findings suggest novel risk factors associated that increase the risk of chromosome 21 nondisjunction in the families with consanguinity. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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