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.

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.

Germany, Statistical Data Included, Usage, Diagnosis, In situ hybridization, Genetic disorders, Karyotypes, Phenothiazine, Phenothiazines

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