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OBJECTIVE To establish a gene diagnosis method for X linked retinitis pigmentosa (XLRP). METHODS Ten microsatellite markers were selected from the region where the RP2 and RP3 gene may be located at Xp21.1-p11.23. Haplotype analysis for XLRP pedigrees was used to determine the chromosome region which is RP related and whether this region was carried by the individuals we want to detect. RESULTS The young female who is the RP carrier or the young boy who is the pre-symptom RP patient could be determined this way in 4 XLRP family. CONCLUSIONS Haplotype analysis for XLRP Pedigrees is useful.
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