| 1. |
- Chong, S S, et al.
(author)
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Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease : evidence from single sperm analyses.
- 1997
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In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 6:2, s. 301-9
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Journal article (peer-reviewed)abstract
- New mutations for Huntington disease (HD) arise from intermediate alleles (IAs) with between 29 and 35 CAG repeats that expand on transmission through the paternal germline to 36 CAGs or greater. Using single sperm analysis, we have assessed CAG mutation frequencies for four IAs in families with sporadic HD (IANM) and IAs ascertained from the general population (IAGP) by analyzing 1161 single sperm from three persons. We show that IANM are more unstable than IAGP with identical size and sequence. Furthermore, comparison of different sized IAs and IAs with different sequences between the CAG and the adjacent CCG tracts indicates that DNA sequence is a major influence on CAG stability. These studies provide estimates of the likelihood of expansion of IANM and IAGP to > or = 36 CAG repeats for these individuals. For an IA with a CAG of 35 in this family with sporadic HD, the likelihood for siblings to inherit a recurrent mutation > or = 36 CAG is approximately 10%. For IAGP of a similar size, the risk of inheriting an expanded allele of > or = 36 CAG through the paternal germline is approximately 6%. These risk estimates are higher than previously reported and provide additional information for counselling in these families. Further studies on persons with IAs will be needed to determine whether these results can be generalized to other families.
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| 2. |
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| 3. |
- Germany, G A, et al.
(author)
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Remote determination of auroral energy characteristics during substorm activity
- 1997
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In: Geophysical Research Letters. - 0094-8276 .- 1944-8007. ; 24, s. 995-998
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Journal article (peer-reviewed)abstract
- Ultraviolet auroral images from the Ultraviolet Imager (UVI) onboard the POLAR satellite can be used as quantitative remote diagnostics of the auroral regions, yielding estimates of incident energy characteristics, compositional changes, and other higher order data products. Here incident energy estimates derived from UVI are compared with in situ measurements of the same parameters from an overflight by the DMSP F12 satellite coincident with the UVI image times during substorm activity occurring on May 19, 1996. This event was simultaneously observed by WIND, GEOTAIL, INTERBALL, DMSP and NOAA spacecraft as well as by POLAR.
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