Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2004
[Clinical application of linkage analysis for vWD family].
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Zhou Jing, Yang Yuan, Jia Yong-qian, Yang Yi-ming, Deng Cheng-qi, Jiang Hong
Аннотация
OBJECTIVE: To explore the application of amplified fragment length polymorphism (amp-FLP) of short tandem repeat (STR) within intron 40 of vWF gene in the gene diagnosis and genetic consulting service for von Willebrand disease (vWD).
METHODS: We isolated DNA from the blood of members in 8 families with vWD, measured the relative parameters of vWD simultaneously; and amplified the fragment length polymorphism of two loci (nt1890-1990 and nt2215-2380) within intron 40 of vWF gene using PCR. The RCR products were analyzed by means of polyacrylamide gel electrophoresis (PAGE) and silver staining.
RESULTS: Five types of amp-FLP were identified on nt1890-1990 and nt2215-2380 respectively. Haplotypes could be identified to link with defective vWF gene in these families.
CONCLUSION: Combination of PCR and PAGE is a fast and practical method for carrying out family analysis of inherited disease; nt1980-1990 and nt2215-2380 of vWF gene are two ideal genetic labels in linkage analysis and hereditary consultation of vWD family.
METHODS: We isolated DNA from the blood of members in 8 families with vWD, measured the relative parameters of vWD simultaneously; and amplified the fragment length polymorphism of two loci (nt1890-1990 and nt2215-2380) within intron 40 of vWF gene using PCR. The RCR products were analyzed by means of polyacrylamide gel electrophoresis (PAGE) and silver staining.
RESULTS: Five types of amp-FLP were identified on nt1890-1990 and nt2215-2380 respectively. Haplotypes could be identified to link with defective vWF gene in these families.
CONCLUSION: Combination of PCR and PAGE is a fast and practical method for carrying out family analysis of inherited disease; nt1980-1990 and nt2215-2380 of vWF gene are two ideal genetic labels in linkage analysis and hereditary consultation of vWD family.