Homozygosity mapping of the achromatopsia locus in the Pingelapese

Article Abstract:

A genome-wide linkage study of three Pingelapese kindreds with achromatopsia enabled a locus for the disorder to be identified in a region of less than 6.5 cM on chromosome 8q21-q22, with a maximal multipoint LOD score for marker D8S1707. Homozygosity was found for adjacent markers D8S275, D8S1119 and D8S1707. Achromatopsia or total color blindness occurs at a very high frequency among the Pingelapese of the Eastern Caroline Islands in Micronesia, affecting about 4-10% of the Pingelapese population compared to 1:20,000-1:50,000 in the general population.

Author: Leal, Suzanne M., Winick, Jeffrey D., Blundell, Maude L., Galke, Brandi L., Salam, Ambar A., Karayiorgou, Maria
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Genetic aspects, Color blindness, Oceanians, Pacific Islanders

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Multiplex-FISH for pre- and postnatal diagnostic applications

Article Abstract:

Multiplex-FISH (M-FISH) for pre- and postnatal diagnostic use is discussed with description of its use, which allows visualization of the 22 human autosomes and the 2 sex chromosomes in 24 colors. M-FISH is reliable for diagnostic use of various sorts, gives results within 24 hours and, combined with Giemsa banding analysis, gives maximum cytogenetic information.

Author: Schuffenhauer, Simone, Uhrig, Sabine, Speicher, Michael R., Cohen, Monika, Fauth, Christine, Wirtz, Antje, Daumer-Haas, Cornelia, Apacik, Can, Muller-Navia, Jutta, Cremer, Thomas, Murken, Jan
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
Germany, Statistical Data Included, Usage, Diagnosis, In situ hybridization, Genetic disorders, Karyotypes, Phenothiazine, Phenothiazines

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