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  • Title: [Polymorphism distribution of ST14(DXS52) VNTR in normal individuals in northeastern region of China and its application in gene diagnosis of hemophilia A].
    Author: Chunlian J, Changkun L, Jun S, Li J, Wenhan D, Xue Z, Kailai S.
    Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1998 Feb 10; 15(1):31-4. PubMed ID: 9456369.
    Abstract:
    OBJECTIVE: To find out the polymorphism distribution of St14(DXS52) variable number of tandem repeat (VNTR) in normal individuals in the northeastern region of China and hence provide a proof for the gene diagnosis of hemophilia A. METHODS: 60 unrelated individuals (male 12, female 48) in the northeastern region of China were detected using PCR method. RESULTS: 8 allelic fragments detected were 0.7kb(A), 1. 3kb(B), 1.39kb(C), 1.57kb(D), 1.63kb(E), 1.69kb(F), 2.1kb(G), 2. 4kb(H) long in turn. Their frequencies were A 0.38, B0.046, C0.232, E0.111, F0.130, G0.009, H0.009 respectively. Polymorphism information contents (PIC) was 76.36%. Gene diagnosis of 3 hemophilia A patients was performed using this VNTR polymorphism. In one family a female was determined to be a normal individual, not a carrier; 2 male fetus patients were detected in other 2 families. CONCLUSION: St14 is a valuable polymorphism marker for gene diagnosis of hemophilia A.
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