| Autor: |
Kuslich CD; Molecular Cytogenetics Laboratory, Kapiolani Health Research Institute, Honolulu, HI 96816-0923. donlon@hawaii.edu., Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA |
| Jazyk: |
angličtina |
| Zdroj: |
American journal of human genetics [Am J Hum Genet] 1999 Jan; Vol. 64 (1), pp. 70-6. |
| DOI: |
10.1086/302177 |
| Abstrakt: |
A Prader-Willi syndrome patient is described who has a de novo balanced translocation, (4;15)(q27;q11.2)pat, with breakpoints lying between SNRPN exons 2 and 3. Parental-origin studies indicate that there is no uniparental disomy and no apparent deletion. This patient expresses ZNF127, SNRPN exons 1 and 2, IPW, and D15S227E (PAR1) but does not express either SNRPN exons 3 and 4 or D15S226E (PAR5), as assayed by reverse transcription-PCR, of peripheral blood cells. Methylation studies showed normal biparental patterns of inheritance of loci DN34/ZNF127, D15S63, and SNRPN exon 1. Results for this patient and that reported by Sun et al. support the contention that an intact genomic region and/or transcription of SNRPN exons 2 and 3 play a pivotal role in the manifestations of the major clinical phenotype in Prader-Willi syndrome. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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