Pennsylvania Folklife Vol. 15, No. 4

• Amish Album • Look Back, Once! • The Pennsylvania Barn in the South: Part II • Folk Festival Program • Contributors to this Issue • Festival Highlights • Twenty Questions on Powwowing • Moon-Signs in Cumberland County • Reminiscences of Des Dumm Fattel • Notes and Documents: Two Documents from the First World War • The Dutch and Irish Colonies of Pennsylvaniahttps://digitalcommons.ursinus.edu/pafolklifemag/1024/thumbnail.jp

Pennsylvania Folklife Vol. 16, No. 1

• Indian Readers and Healers by Prayer • Bayard Taylor\u27s Portrait of Pennsylvania Quakerism • Gypsy Stories from the Swatara Valley • Stump-Pulling • Occult Tales from Union County • Beekeeping and Bee Lore in Pennsylvania • New Materials on the 18th Century Emigration from the Speyer State Archives • The Snake-Bitten Dutchman • Notes and Documents: A Letter to Germany (1806) ; Midwestern Diary of Joel Vale Garretson (1863-1864) • Questionnaire on Hominyhttps://digitalcommons.ursinus.edu/pafolklifemag/1025/thumbnail.jp

Pennsylvania Folklife Vol. 14, No. 1

• The Oley Valley Basketmaker • The Sheen of Copper • Pennsylvania Corncribs • Land-Clearing in Lycoming County, Pennsylvania • Funerals in My Childhood Days • Folk Medicine from Western Pennsylvania • Peddlers I Rememberhttps://digitalcommons.ursinus.edu/pafolklifemag/1017/thumbnail.jp

Pennsylvania Folklife Vol. 10, No. 1

• Tramp Work : Penknife Plus Cigar Boxes • Tramps of My Youth • The German Broadside Songs of Pennsylvania • The Rise of Interest in Folk Art • Dutch Treats for Breakfast • The Amish, Citizens of Heaven and America • Collectanea • My Great-Grandmother • Old Sweitzer\u27s Ghost • Pastimes of My Youth • Battalion Day • Seven Days Make One Weekhttps://digitalcommons.ursinus.edu/pafolklifemag/1004/thumbnail.jp

Pennsylvania Folklife Vol. 17, No. 1

• The Council of the Alleghenies • Lewis the Robber in Life and Legend • Snakes and Snakelore of Pennsylvania • The Folklore Repertory of a Third-Grade Class • Weather Signs and Calendar Lore from the Dumb Quarter • Hardships of Circuit-Rider Life on the Pennsylvania-Ohio Frontier • Eighteenth-Century Emigration from the Duchy of Zweibrucken • Folk-Cultural Questionnaire No. 5: The Pennsylvania Folk-Dance Traditionhttps://digitalcommons.ursinus.edu/pafolklifemag/1029/thumbnail.jp

Pennsylvania Folklife Vol. 40, No. 1

• Square Notching in the Log Carpentry Tradition of Pennsylvania Extended • Letters from Home to a Wandering Farm Boy • Parre Schtories • Handcrafts in Lancaster County • Johann Conrad Dieffenbach of Tulpehocken • Aldes un Neies (Old and New)https://digitalcommons.ursinus.edu/pafolklifemag/1129/thumbnail.jp

A 115-bp MethyLight assay for detection of p16 (CDKN2A) methylation as a diagnostic biomarker in human tissues

<p>Abstract</p> <p>Background</p> <p><it>p16 </it>Methylation is a potential biomarker for prediction of malignant transformation of epithelial dysplasia. A probe-based, quantitative, methylation-specific PCR (MSP) called MethyLight may become an eligible method for detecting this marker clinically. We studied oral mucosa biopsies with epithelial dysplasia from 78 patients enrolled in a published 4-years' followup cohort, in which cancer risk for patients with <it>p16 </it>methylation-positive dysplasia was significantly higher than those without <it>p16 </it>methylation (by 150-bp MSP and bisulfite sequencing; +133 ~ +283, transcription starting site, +1). The <it>p16 </it>methylation status in samples (<it>N </it>= 102) containing sufficient DNA was analyzed by the 70-bp classic (+238 ~ +307) and 115-bp novel (+157 ~ +272) MethyLight assays, respectively.</p> <p>Results</p> <p><it>p16 </it>Methylation was detectable in 75 samples using the classic MethyLight assay. The methylated-<it>p16 </it>positive rate and proportion of methylated-<it>p16 </it>by the MethyLight in MSP-positive samples were higher than those in MSP-negative samples (positive rate: 37/44 vs. 38/58, <it>P</it>=0.035, two-sided; proportion [median]: 0.78 vs. 0.02, <it>P <</it>0.007). Using the published results of MSP as a golden standard, we found sensitivity, specificity, and accuracy for this MethyLight assay to be 70.5%, 84.5%, and 55.0%, respectively. Because amplicon of the classic MethyLight procedure only partially overlapped with the MSP amplicon, we further designed a 115-bp novel MethyLight assay in which the amplicon on the sense-strand fully overlapped with the MSP amplicon on the antisense-strand. Using the 115-bp MethyLight assay, we observed methylated-<it>p16 </it>in 26 of 44 MSP-positive samples and 2 of 58 MSP-negative ones (<it>P </it>= 0.000). These results were confirmed with clone sequencing. Sensitivity, specificity, and accuracy using the 115-bp MethyLight assay were 59.1%, 98.3%, and 57.4%, respectively. Significant differences in the oral cancer rate were observed during the followup between patients (≥60 years) with and without methylated-<it>p16 </it>as detected by the 115-bp MethyLight assay (6/8 vs. 6/22, P = 0.034, two-sided).</p> <p>Conclusions</p> <p>The 115-bp MethyLight assay is a useful and practical assay with very high specificity for the detection of <it>p16 </it>methylation clinically.</p

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition