Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
作者： E. Kremer , M. Pritchard , M. Lynch , S. Yu , K. Holman
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摘要: The sequence of a Pst I restriction fragment was determined that demonstrate instability in fragile X syndrome pedigrees. region localized to trinucleotide repeat p(CCG)n. flanking this were identical normal and affected individuals. breakpoints two somatic cell hybrids constructed break at the site also mapped sequence. exhibits both when cloned nonhomologous host after amplification by polymerase chain reaction. These results suggest variation copy number as molecular basis for possibly site. This would account observed properties vivo vitro.
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