TY - JOUR
T1 - A new locus for dominant 'zonular pulverulent' cataract, on chromosome 13
AU - Mackay, Donna
AU - Ionides, Alexander
AU - Berry, Vanita
AU - Moore, Anthony
AU - Bhattacharya, Shomi
AU - Shiels, Alan
N1 - Funding Information:
The cataract family was ascertained through the genetic database at Moorfields Eye Hospital, London. Autosomal dominant inheritance was supported by the presence of affected individuals in each generation,
PY - 1997/6
Y1 - 1997/6
N2 - Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report the linkage of a new locus for dominant 'zonular pulverulent' cataract (CZP) to chromosome 13. To map the CZP locus we performed molecular-genetic linkage analysis using microsatellite markers in a five-generation English pedigree. After exclusion of eight known loci and several candidate genes for autosomal dominant cataract, we obtained significantly positive LOD scores (Z) for markers D13S175 (maximum Z [Z(max)= 4.06; maximum recombination frequency 10(max)]= 0) and D13S1236 (Z(max)= 5.75, 0(max)= 0). Multipoint analysis gave Z (max) = 6.62 (0(max)= 0) at marker D13S175. Haplotype data indicated that CZP probably lies in the centromeric region of chromosome 13, provocatively close to the gene for lens connexin46.
AB - Inherited cataract is a clinically and genetically heterogeneous disease that most often presents as a congenital autosomal dominant trait. Here we report the linkage of a new locus for dominant 'zonular pulverulent' cataract (CZP) to chromosome 13. To map the CZP locus we performed molecular-genetic linkage analysis using microsatellite markers in a five-generation English pedigree. After exclusion of eight known loci and several candidate genes for autosomal dominant cataract, we obtained significantly positive LOD scores (Z) for markers D13S175 (maximum Z [Z(max)= 4.06; maximum recombination frequency 10(max)]= 0) and D13S1236 (Z(max)= 5.75, 0(max)= 0). Multipoint analysis gave Z (max) = 6.62 (0(max)= 0) at marker D13S175. Haplotype data indicated that CZP probably lies in the centromeric region of chromosome 13, provocatively close to the gene for lens connexin46.
UR - http://www.scopus.com/inward/record.url?scp=0030978852&partnerID=8YFLogxK
U2 - 10.1086/515468
DO - 10.1086/515468
M3 - Article
C2 - 9199569
AN - SCOPUS:0030978852
SN - 0002-9297
VL - 60
SP - 1474
EP - 1478
JO - American journal of human genetics
JF - American journal of human genetics
IS - 6
ER -