TY - JOUR
T1 - An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12
AU - Yamada, Koki
AU - Tomita, Hiro Aki
AU - Yoshiura, Koh Ichiro
AU - Kondo, Shinji
AU - Wakui, Keiko
AU - Fukushima, Yoshimitsu
AU - Ikegawa, Shiro
AU - Nakamura, Yusuke
AU - Amemiya, Tsugio
AU - Niikawa, Norio
N1 - Funding Information:
We are grateful to members of the family for their co-operation. This work was supported in part by a Grant-in-Aid for Scientific Research (Category A, No. 08307019) from the Ministry of Education, Science, Sports and Culture of Japan, and by a Grant for Human Genome Analysis from the Ministry of Health and Welfare of Japan.
PY - 2000/7
Y1 - 2000/7
N2 - We assigned the locus for a previously reported new type of autosomal dominant posterior polar cataract (CPP3) to 20p12-q12 by a genome-wide two-point linkage analysis with microsatellite markers. CPP3 is characterized by progressive, disc-shaped, posterior subcapsular opacity. The disease was seen in 10 members of a Japanese family and transmitted in an autosomal dominant fashion through four generations. We obtained a maximum lod score (Z(max)) of 3.61 with a recombination fraction (θ) of 0.00 for markers D20S917, D20S885 and D20S874. Haplotype analysis gave the disease gene localization at a 15.7-cM interval between D20S851 and D20S96 loci on chromosome 20p12-q12. Since the BFSP1 that encodes the lens-specific beaded filament structural protein 1 (filensin) has been mapped around the CPP3 region, we performed sequence analysis on its entire coding region. However, no base substitution or deletion was detected in the CPP3 patients. The mapping of the CPP3 locus to 20p12-q12 not only expands our understanding of the genetic heterogeneity in autosomal dominant posterior polar cataracts but also is a clue for the positional cloning of the disease gene.
AB - We assigned the locus for a previously reported new type of autosomal dominant posterior polar cataract (CPP3) to 20p12-q12 by a genome-wide two-point linkage analysis with microsatellite markers. CPP3 is characterized by progressive, disc-shaped, posterior subcapsular opacity. The disease was seen in 10 members of a Japanese family and transmitted in an autosomal dominant fashion through four generations. We obtained a maximum lod score (Z(max)) of 3.61 with a recombination fraction (θ) of 0.00 for markers D20S917, D20S885 and D20S874. Haplotype analysis gave the disease gene localization at a 15.7-cM interval between D20S851 and D20S96 loci on chromosome 20p12-q12. Since the BFSP1 that encodes the lens-specific beaded filament structural protein 1 (filensin) has been mapped around the CPP3 region, we performed sequence analysis on its entire coding region. However, no base substitution or deletion was detected in the CPP3 patients. The mapping of the CPP3 locus to 20p12-q12 not only expands our understanding of the genetic heterogeneity in autosomal dominant posterior polar cataracts but also is a clue for the positional cloning of the disease gene.
KW - Autosomal dominant congenital cataract
KW - BFSP1
KW - Chromosome 20
KW - Filensin
KW - Haplotype analysis
KW - Linkage analysis
KW - Mapping
KW - Posterior polar cataract
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U2 - 10.1038/sj.ejhg.5200485
DO - 10.1038/sj.ejhg.5200485
M3 - Article
C2 - 10909854
AN - SCOPUS:0033922770
VL - 8
SP - 535
EP - 539
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 7
ER -