Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family.
BACKGROUND
The autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 14 genes and further loci remains to be identified. This study was intended to identify mutations in a Chinese pedigree with ADRP.


METHODS
A large Chinese family with retinitis pigmentosa was collected. The genetic analysis of the family suggested an autosomal dominant pattern. Microsatellite (STR) markers tightly linked to genes known to be responsible for ADRP were selected for linkage analysis. Exons along with adjacent splice junctions of PRPF31 were amplified by polymerase chain reaction (PCR) and screened by direct sequencing.


RESULTS
The caused gene of ADRP was mapped to 19q13.4 between markers D19S572 and D19S877, with a maximum LOD score of 3.01 at marker D19S418 (recombination fraction = 0).


CONCLUSIONS
The affected gene linked to the 19q13.4 in a Chinese family with ADRP, which is different from other mutations at the same loci in other Chinese families.
Dai
Li-li
LL
Department of Ophthalmology, Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang, China.
Sun
Da-wei
DW
Wang
Zheng
Z
Fu
Song-bin
SB
Huang
Shang-zhi
SZ
Zhang
Zhong-yu
ZY
Zeng
Guang
G
Peng
Shao-min
SM
D044466:Asian People / Q000235:genetics; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*
D005136:Eye Proteins; C454222:PRPF31 protein, human