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.

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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.

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New aspects of an old theme: the genetic basis of human color vision

Article Abstract:

The genetic basis of human color vision as revealed in recent studies is discussed with information about finding mutations in the gene encoding a cGMP-gated cation channel, identification that resolved the molecular basis of complete color blindness. Significant analogies among some quite different sensory signal transduction systems have been seen.

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