A new locus for autosomal dominant congenital coronary cataract in a Chinese family maps to chromosome 3q.
OBJECTIVE
To identify the genetic defect in an autosomal dominant congenital coronary cataract family (ADCCC).


METHODS
A Chinese family with ADCC was identified and characterized. All the members were genotyped with microsatellite markers at genes and loci that were considered to be associated with hereditary cataracts. Linkage analysis was performed after genotyping. Two-point Logarithm of odds (LOD) scores were calculated using MLINK software, from the LINKAGE program package. Multipoint parametric and non-parametric linkage were performed via the program MERLIN.


RESULTS
Linkage analysis provided evidence for a genetic locus for the ADCC on chromosome 3q. The maximum Two-point LOD score was 3.01 (theta=0) for two close markers.


CONCLUSIONS
The mapping of the congenital cataracts in a Chinese family locus to chromosome 3q.
Department of Ophthalmology, the Port Hospital of Tianjin, Tianjin, China.
Guishun
G
Liu
Yunbo
Y
Li
Yanfei
Y
Ruan
Wenping
W
Cao
Li
L
Xin
Jiangyuan
J
Qian
Jingzhi
J
Gu
D044466:Asian People / Q000235:genetics*; D002386:Cataract / Q000145:classification / Q000151:congenital* / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008126:Lod Score; D008297:Male; D018895:Microsatellite Repeats; D035583:Rare Diseases