Journal article
Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome
Chromosoma, Vol.107(3), pp.166-172
06/1998
Handle:
https://hdl.handle.net/2376/116469
PMID: 9639654
Abstract
In species with chiasmate meioses, alterations in genetic recombination are an important correlate of nondisjunction. In general, these alterations fall into one of two categories: either homologous chromosomes fail to pair and/or recombine at meiosis I, or they are united by chiasmata that are suboptimally positioned. Recent studies of human nondisjunction suggest that these relationships apply to our species as well. However, methodological limitations in human genetic mapping have made it difficult to determine whether the important determinant(s) in human nondisjunction is absent recombination, altered recombination, or both. In the present report, we describe somatic cell hybrid studies of chromosome 21 nondisjunction aimed at overcoming this limitation. By using hybrids to “capture” individual chromosomes 21 of the proband and parent of origin of trisomy, it is possible to identify complementary recombinant meiotic products, and thereby to uncover crossovers that cannot be detected by conventional mapping methods. In the present report, we summarize studies of 23 cases. Our results indicate that recombination in proximal 21q is infrequent in trisomy-generating meioses and that, in a proportion of the meioses, recombination does not occur anywhere on 21q. Thus, our observations indicate that failure to recombine is responsible for a proportion of trisomy 21 cases.
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Details
- Title
- Centromeric genotyping and direct analysis of nondisjunction in humans: Down syndrome
- Creators
- J. J Shen - Department of Genetics and the Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA USS. L Sherman - Department of Genetics and the Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA USTerry J Hassold - Department of Genetics and the Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, OH 44106, USA US
- Publication Details
- Chromosoma, Vol.107(3), pp.166-172
- Academic Unit
- Molecular Biosciences, School of
- Publisher
- Springer-Verlag; Berlin/Heidelberg
- Identifiers
- 99900547526301842
- Language
- English
- Resource Type
- Journal article