[Gene mapping in a Chinese family with autosomal dominant centralpuiverulent cataract].
OBJECTIVE
Mapping the mutation gene for a Chinese family with autosomal dominant cataract.


METHODS
It was a retrospective study. Thirty-two individuals in this family, including fifteen patients, eight normal siblings and nine spouses, were investigated and 8 ml blood was collected from each member under informed consent. Genomic DNA of all 29 members was isolated by standard protocol. A genome wide scan was performed after PCR amplification for microsatellite makers on autosomal chromosomes. LOD score was calculated by Linkage 5. 1 and GeneHunter software.


RESULTS
Positive Lod score were obtained in 10 microsatellite makers (D20S186, D20S163, D20S915, D20S152, D20S98, D20S904, D20S875, D20S112, D20S1140, D20S432) on chromosome 20q, and the maximum LOD score with D20S904 was 6.02.


CONCLUSIONS
Haplotype construction and multipoint analysis mapped the mutation gene in this inherited cataract family to the chromosome 20p12. 1-20p11.23 region between D20S186 and D20S912, which is an approximately 5.47 centimorgan length. This is the second congenital cataract locus linked to chromosome 20q.
Li
Ning-dong
ND
Tianjin Eye Hospital, Tianjin Medical University, Tianjin 300022, China.
Bu
Juan
J
Yuan
Song-tao
ST
Yang
Jian-jun
JJ
Zhao
Kan-xing
KX
D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006239:Haplotypes; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D010375:Pedigree; D012189:Retrospective Studies