Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24.
OBJECTIVE
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.
Abu
Almogit
A
Danek Gartner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel.
Frydman
Moshe
M
Marek
Dina
D
Pras
Eran
E
Stolovitch
Chaim
C
Aviram-Goldring
Ayala
A
Rienstein
Shlomit
S
Reznik-Wolf
Haike
H
Pras
Elon
E
D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003316:Corneal Diseases / Q000208:ethnology / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006200:Hair Color / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D007557:Israel / Q000453:epidemiology; D007585:Jews; D008297:Male; D009693:Nucleic Acid Hybridization; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013577:Syndrome; D014416:Tunisia / Q000208:ethnology
D005819:Genetic Markers