摘要
目的
研究中国人vWF基因内含子40中2个四核苷酸STR位点的扩增长度片段多态性(amp-FLP)，并进行血管性血友病(vWD)家系分析。
方法
聚合酶链反应(PCR)扩增A、B两个位点片段，用聚丙烯酰胺凝胶电泳(PAGE)和高敏感度银染方法分析A、B两位点的amp-FLP，对一个vWD家系成员DNA标本进行检测。
结果
该家系中A、B位点均有5种多态性，单倍型A3／B1与致病基因连锁，结合临床症状，为遗传咨询提供了线索。
结论
PCR联合PAGE检测STR位点方便、快速，适用于临床应用进行遗传性疾病的家系分析和遗传咨询；nt1890-1990和nt2215-2380
四川大学硕士学位论文
是适用于vWD家系连锁分析和遗传咨询较好的vWF基因内遗传
标记。
OBJECTIVE
To set up a convenient method for analysis of the amplified fragment
length polymorphism of short tandem within intron 40 of von
Willebrand factor gene .
METHODS
Followed polymerase chain reaction followed by polyacrylamide gel
electrophoresis and silver stain were used to analyze the amplified
fragment length polymorphism of two locus (A and B).
RESULTS
Five types of amp-FLP were identified on loci A and B. Haplotypes
A3/B1 was found to link with defective vWF gene in this family.
CONCLUSION
Combining PCR and PAGE is a fast and practical method to carry out
family analysis of inherited disease; nt1980-1990 and nt2215-2380 of
vWF gene are two ideal genetic labels in linkage study and hereditary
consultation of vWD family.
引文
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