Abstract
Familial adenomatous polyposis (FAP) is a disease of inheritance with autosomal dominant gene, located at chromosome 5 most probably near band 5q21–22. It is important to identify the gene carrier in young age before developing polyposis. In order to assess the importance of retinal pigmentation (Congenital Hypertrophy of the Retinal Pigment Epithelium, CHRPE)1,2) as a subclinical marker of gene carrier, precise retinal pigmentation and RFLP studies using various 5q DNA probes e. g. C11p11, Pi227 and YN5.48 were carried out. There are no discrepancies between gene carrier and RFLP study.
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© 1990 Springer Japan
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Baba, S., Tsuchiya, M., Machida, H., Yamada, M. (1990). Retinal Pigmentations in Familial Adenomatous Polyposis, and Linkage Study on Gene Probes on Chromosome 5q. In: Utsunomiya, J., Lynch, H.T. (eds) Hereditary Colorectal Cancer. Springer, Tokyo. https://doi.org/10.1007/978-4-431-68337-7_13
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DOI: https://doi.org/10.1007/978-4-431-68337-7_13
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