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. 1990 Aug;12(4):281-5.

[XbaI polymorphism in intron 22 of factor VIII and gene potential for prenatal diagnosis of hemophilia A]

[Article in Chinese]
Affiliations
  • PMID: 1979254

[XbaI polymorphism in intron 22 of factor VIII and gene potential for prenatal diagnosis of hemophilia A]

[Article in Chinese]
Y Shen. Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1990 Aug.

Abstract

Polymorphism of an XbaI restriction endonuclease site in intron 22 of the factor VIII gene was studied. 79 heredity-unrelated X chromosomes from 83 Chinese were analyzed. The frequency of the polymorphic site was 0.56, providing polymorphism information content (PIC) of 0.49. Fourteen out of 17 families with hemophilia A could be diagnosed by the Xba 1/22i restricted fragment length polymorphism (RFLPs). Therefore, as a genetic marker within the factor VIII gene, Xba I/22i RFLPs should be useful for prenatal diagnosis of hemophilia A and for detection of its carriers.

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