TY - JOUR
T1 - Mapping of a gene causing brittle cornea syndrome in Tunisian Jews to 16q24
AU - Abu, Almogit
AU - Frydman, Moshe
AU - Marek, Dina
AU - Pras, Eran
AU - Stolovitch, Chaim
AU - Aviram-Goldring, Ayala
AU - Rienstein, Shlomit
AU - Reznik-Wolf, Haike
AU - Pras, Elon
PY - 2006/12
Y1 - 2006/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=34248201577&partnerID=8YFLogxK
U2 - 10.1167/iovs.06-0206
DO - 10.1167/iovs.06-0206
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AN - SCOPUS:34248201577
SN - 0146-0404
VL - 47
SP - 5283
EP - 5287
JO - Investigative Ophthalmology and Visual Science
JF - Investigative Ophthalmology and Visual Science
IS - 12
ER -