Sister chromatid exchange analysis of the 15q11 region in Prader-Willi syndrome patients |
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| Authors: | Sharon L Wenger Samuel D Rauch Jeanne M Hanchett |
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| Institution: | (1) Department of Pediatrics, University of Pittsburgh, 15213-2583 Pittsburgh, PA, USA;(2) Division of Medical Genetics, Children's Hospital of Pittsburgh One Children's Place, 3705 Fifth Avenue at DeSoto Street, 15213-2583 Pittsburgh, PA, USA;(3) Rehabilitation Institute of Pittsburgh, 15217-1396 Pittsburgh, PA, USA;(4) Present address: Department of Obstetrics and Gynecology, West Virginia University, 26506 Morgantown, WV, USA;(5) Children's Hospital of Pittsburgh, One Children's Place, 3705 Fifth Avenue at DeSoto Street, 15213-2583 Pittsburgh, PA, USA |
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| Abstract: | Summary Prader-Willi syndrome (PWS) is a sporadic disorder in which about half of cases have a 15q12 deletion. Although a small number of cases have other rearrangements involving 15q12, the rest of the cases appear to have normal chromosomes. Clinical similarities among all these patients regardless of the karyotype strongly suggests a common etiology. To investigate the nature of this common etiology, we analyzed sister chromatid exchange (SCE) at the 15q11-13 region in 10 PWS patients with the chromosome deletion, 12 PWS patients with normal chromosomes, and 11 normal control individuals. While SCE at the q11-13 region was absent on the 15q12 deleted chromosome, the percentage of SCE on chromosome 15 at q11 was statistically higher for PWS with normal chromosomes (10.1%) compared to that for normal controls (1.9%) and the normal homologue (2.2%) in deleted patients ( 2=7.7982, df=2, P<0.025). The data suggest relative instability of DNA at the 15q11 region in PWS patients. |
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