The absence of the uniparental inheritance of X-chromosomes in spontaneously aborted fetuses with karyotype 46.XX |
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Authors: | V N Evdokimova S A Nazarenko |
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Institution: | (1) Research Institute of Medical Genetics, Tomsk Science Center, Russian Academy of Medical Sciences, 634050 Tomsk, Russia |
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Abstract: | The problem of the presence of imprinted regions on the X-chromosome and the possible influence of the imprinted expression
of X-linked genes on the embryonic development in man remains largely unsolved. A comparison of the uniparental inheritance
of chromosomes or of their regions having different phenotypic manifestations provides an instrument with which to study the
phenomenon of genomic imprinting at the chromosomal level. Assuming that the imprinted inactivation of X-chromosomes is functionally
significant for embryonic development, we have studied several polymorphic micro- and minisatellite loci of X-chromosomes
in 52 fetuses with karyotype 46.XX, which were spontaneously aborted during the first trimester of pregnancy. The purpose
was to determine the contribution of uniparental disomy for the X-chromosome in any disturbances of the embryonic development.
We found that inheritance of X-chromosomes was biparental in the studied embryos, suggesting the absence of any significant
contribution of the parental origin of the X-chromosome to embryonic mortality occurring between 4 and 12 weeks of development. |
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Keywords: | early embryonic mortality uniparental inheritance imprinting X-chromosome |
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