Genome-wide mapping studies have provided evidence of a type 1 diabetes susceptibility gene (IDDM8) that is located on chromosome 6q27. However, association studies of IDDM8 have so far been negative. The purpose of this investigation was to determine a linkage disequilibrium (LD) map in the chromosome 6q27 region and to better localize IDDM8. A physical map of nearly 1 Mb containing the chromosome 6 telomere was constructed, and polymorphic markers spanning this region were defined. Haplotypes composed of the markers in LD were tested for association with type 1 diabetes in 266 families. A microsatellite marker allele and multiple haplotypes were associated with IDDM8, which suggests localization of this type 1 diabetes susceptibility gene to the terminal 200 kb of chromosome 6.
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http://dx.doi.org/10.2337/diabetes.49.3.508 | DOI Listing |
Drug Resist Updat
January 2025
Loma Linda University Cancer Center, Loma Linda, CA 92354, United States; Department of Basic Sciences, Loma Linda University, Loma Linda, CA 92354, United States. Electronic address:
Chromosomal rearrangements (CR) initiate leukemogenesis in approximately 50 % of acute myeloid leukemia (AML) patients; however, limited targeted therapies exist due to a lack of accurate molecular and genetic biomarkers of refractory mechanisms during treatment. Here, we investigated the pathological landscape of treatment resistance and relapse in 16 CR-AML patients by monitoring cytogenetic, RNAseq, and genome-wide changes among newly diagnosed, refractory, and relapsed AML. First, in FISH-diagnosed KMT2A (MLL gene, 11q23)/AFDN (AF6, 6q27)-rearrangement, RNA-sequencing identified an unknown CCDC32 (15q15.
View Article and Find Full Text PDFActa Neuropathol Commun
August 2024
Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Stem Cell Res
October 2024
Developmental Origins of Pediatric Cancer Junior Research Group, German Cancer Research Center (DKFZ), Heidelberg, Germany; Hopp Children's Cancer Center (KiTZ), Heidelberg, Germany. Electronic address:
We generated two human induced pluripotent cell (hiPSC) isogenic clones from an 11-year-old patient with 6q27 deletion syndrome. The heterozygous deletion encompasses approximately 240 kilobases, affecting 6 genes (promoter region of WDR27, coding regions of C6orf120, PHF10, DYNLT2, ERMARD, LINC00242). The patient suffered from epilepsy, psychosocial retardation, and a metabolic disorder.
View Article and Find Full Text PDFMol Cytogenet
July 2024
Department of Endocrinology, the Children's Hospital of Zhejiang University School of Medicine, No 3333 Binsheng Road, Hangzhou, 310052, China.
Sci Rep
July 2024
Department of Molecular Biology and Genomics, Comenius University in Bratislava, Jessenius Faculty of Medicine in Martin (JFM CU), Martin, Slovakia.
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