Combined analysis of the MspI and XbaI polymorphisms in intron 22 of the factor VIII gene for detection of hemophilia A in a Korean population

被引：5
作者：
Park, S. H. [2 ]
Chung, N. [2 ]
Lee, M. R. [3 ]
Yoo, S. K. [3 ]
Choi, Y. M. [1 ]
机构：
[1] Seoul Natl Univ, Coll Med, Inst Reprod Med & Populat, Dept Obstet & Gynecol,Med Res Ctr, Seoul, South Korea
[2] Korea Univ, Coll Life Sci & Biotechnol, Div Biotechnol, Seoul, South Korea
[3] Korea Hemophilia Fdn Clin, Seoul, South Korea
来源：
GENETICS AND MOLECULAR RESEARCH | 2012年 / 11卷 / 01期
关键词：
Factor VIII gene; Hemophilia A; Intron; 22; MspI; XbaI; Molecular genetic diagnosis; PRENATAL-DIAGNOSIS; CARRIER DETECTION; I POLYMORPHISM; PCR; DNA; INVERSIONS; SEQUENCES; EVOLUTION; MUTATION; INT22H;
D O I：
10.4238/2012.January.9.1
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
To determine the usefulness of MspI/int22h-1 (intron 22 homologous region-1) polymorphism of the factor VIII gene for molecular genetic diagnosis of hemophilia A in the Korean population, MspI/intron 22 and XbaI/intron 22 polymorphisms were analyzed in 101 unrelated Korean families with severe hemophilia A. The expected heterozygosity rates of MspI/int22h-1 and XbaI/ int22h-1 polymorphisms were 49.5 and 43.6%, respectively; these polymorphisms were not in complete linkage disequilibrium. Combined analysis using both polymorphisms provided an informative rate of 66.3%. These results suggest that PCR analysis of the MspI/int22h-1 polymorphism of the factor VIII gene would be useful for carrier detection and prenatal diagnosis of hemophilia A in the Korean population.
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页码：1 / 9
页数：9
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