[Mapping of a pedigree with autosomal dominant inherited congenital sutural cataract].
OBJECTIVE
To map the gene responsible for autosomal dominant congenital sutural cataract of a Chinese family.


METHODS
Peripheral blood samples were collected from the members in a family with autosomal dominant congenital sutural cataract. The genomic DNA was extracted from the blood samples. A genescan was performed using approximately 400 microsatellite markers (ABI). Linkage analysis was processed by Linkage software package to define the location of mutation gene. High density primers labeled with fluorescent stain for the positive region were adopted for fine targeting, and haplotype analysis was processed using Cyrillic software.


RESULTS
The maximum two-point LOD scores was obtained at D3S1279, Z(max) = 2.32 (theta(max) = 0.00). After fine targeting and haplotype analysis, the gene was located within a 38.6 cM region between D3S1267 and D3S1614.


CONCLUSIONS
The gene responsible for congenital sutural cataract in a Chinese pedigree is located at chromosome 3q21.1 - q26.2 within a 38.6 cM region.
Zhang
Lu
L
Eye Hospital, First Hospital Affiliated to Harbin Medical University, Harbin 150001, China.
Gao
Ling-Han
LH
Liu
Ping
P
Li
Zhi-Jian
ZJ
Gao
Wei-Qi
WQ
Qin
Wei
W
Feng
Guo-Yin
GY
Fu
Song-Bin
SB
He
Lin
L
D044466:Asian People / Q000235:genetics; D002386:Cataract / Q000151:congenital / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree