应用连锁分析方法对X连锁型视网膜色素变性进行基因诊断的研究

Gene diagnosis of X linked retinitis pigmentosa by linkage analysis

目的探讨用连锁分析方法对Ｘ连锁型视网膜色素变性（ＲＰ）进行基因诊断的可行性。方法选用ＲＰ３及ＲＰ２所在染色体区间，即Ｘｐ２１．１～ｐ１１．２３的１０个微卫星染色体位标，对Ｘ连锁型ＲＰ家系进行了连锁分析，通过家系成员的单倍型分析，确定致病基因所在的染色体位置，进而判定欲检测个体是否携带该染色体区段。结果确定４个Ｘ连锁隐性ＲＰ家系致病基因在ＲＰ３和ＲＰ２的染色体区间，对各家系中的年幼女性是否为携带者，年幼男性是否将会发展成为患者进行了基因诊断。结论该方法可用于Ｘ连锁型ＲＰ疾病。

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. Conclusion Haplotype analysis for XLRP Pedigrees is useful.