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[Gene diagnosis of hemophilia B by multiple STR analysis].

作者信息

Liu Xiangfan, Wang Xuefeng, Fan Qishi, Chu Haiyan, Fang Yi, Wang Hongli

机构信息

Shanghai Ruijin Hospital, Shanghai Institute of Hematology, Shanghai 200025, China.

出版信息

Zhonghua Xue Ye Xue Za Zhi. 2002 Mar;23(3):147-50.

PMID:12015069
Abstract

OBJECTIVE

To establish a simple, rapid genetic diagnostic system for haemophilia B.

METHODS

The polymorphisms of eight STR loci in 87 normal persons and 8 haemophilia B families were assayed by PCR and genescan, and the linkage relations were analysed.

RESULTS

Six of the eight STR loci can provide genetic information for haemophilia B, and the heterozygosity is 0.50 approximately 0.83, PIC 0.39 approximately 0.80, and DP 0.66 approximately 0.94.

CONCLUSION

Combination of multiple STR loci analysis could be effective method for genetic diagnosis of haemophilia B.

摘要

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