通过连锁分析进行X连锁视网膜色素变性的基因诊断
[Gene diagnosis of X linked retinitis pigmentosa by linkage analysis].
作者信息
Liu M, Wei Y, Liu L
机构信息
Human Genome Laboratory, Institute of Genetics, Fudan University, Shanghai 200433.
出版信息
Zhonghua Yi Xue Za Zhi. 1999 Jan;79(1):54-6.
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.
目的
建立一种针对X连锁视网膜色素变性（XLRP）的基因诊断方法。
方法
从Xp21.1 - p11.23区域（RP2和RP3基因可能所在区域）选择10个微卫星标记。采用XLRP家系单倍型分析来确定与视网膜色素变性相关的染色体区域以及我们想要检测的个体是否携带该区域。
结果
在4个XLRP家系中，通过这种方法能够确定为视网膜色素变性携带者的年轻女性或处于症状前期的视网膜色素变性男性患儿。
结论
XLRP家系单倍型分析是有用的。
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