Back in 1968, several traits had already been linked to the X chromosome, but not a single phenotype had been linked to any of the 22 autosomes. This changed when Roger Donahue and colleagues in Victor McKusick's lab reported that the Duffy blood group locus resided on 1q (PNAS 61:950–955). Donahue examined his own chromosomes and those of his relatives and noted that the "uncoiled" region of chromosome 1 segregated with the Duffy blood group in his family. The cover shows a metaphase spread illustrating this extended heterochromatic region near the centromere of chromosome 1. Now considered a clinically insignificant variant, this heterochromatic region was originally referred to as the "uncoiled" element and is indicated here by an arrow. Special thanks to Azra H. Ligon, Brigham and Women's Hospital, Department of Pathology, Clinical Cytogenetics Laboratory, Boston, for the metaphase image.
The American Journal of Human Genetics publishes papers online ahead of the print issue on a weekly basis. This week's posting includes a paper on genetic variants associated with knee osteoarthritis in women. Click here to see all papers not yet in print.
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The Dawn of Human Matrilineal Diversity |
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Corrected Odds Ratios for Genome Scans |
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Genome-wide Association of Expression |
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Genome-wide Association Study for CRP |
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ZNF469 Mutations in Brittle Cornea |
These are the most read articles by download from the AJHG web site for the last 30 days.
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Cytogeneticist Medical Director
Cytogenetics Laboratory
ARUP Laboratories
University of Utah, Salt Lake City
The University of Utah, Department of Pathology is seeking a Clinical Cytogeneticist to serve as a Medical Director at ARUP Laboratories, an enterprise of the University of Utah. The successful candidate will have a faculty appointment in the Department of Pathology with rank based on academic experience. Through excellence in laboratory testing, service, education and research, ARUP's mission is to continually improve patient care. Click here for more information.