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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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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.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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