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Almogit Abu, Moshe Frydman, Dina Marek, Eran Pras, Chaim Stolovitch, Ayala Aviram-Goldring, Shlomit Rienstein, Haike Reznik-Wolf, Elon Pras; Mapping of a Gene Causing Brittle Cornea Syndrome in Tunisian Jews to 16q24. Invest. Ophthalmol. Vis. Sci. 2006;47(12):5283-5287. https://doi.org/10.1167/iovs.06-0206.
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purpose. To map the gene that causes brittle cornea syndrome (BCS).
methods. Five patients from four families, all of Jewish Tunisian origin, were recruited into the study. Four of the five patients had red hair. DNA from the five patients and 104 control chromosomes was typed with seven 16q polymorphic markers surrounding the hair color gene, MC1R.
results. A common haplotype in the homozygous state, comprising five markers spanning 4.7 Mb on chromosome 16q24, was found in all five patients but in none of the control subjects (P < 0.00001).
conclusions. The gene that causes BCS maps to a 4.7-Mb interval, between the markers D16S3423 and D16S3425 on 16q24.
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