[Clinical application of linkage analysis for vWD family].
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.


CONCLUSIONS
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.
Zhou
Jing
J
Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu 610041, China.
Yang
Yuan
Y
Jia
Yong-qian
YQ
Yang
Yi-ming
YM
Deng
Cheng-qi
CQ
Jiang
Hong
H
D000328:Adult; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D008040:Genetic Linkage / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D020080:Tandem Repeat Sequences / Q000235:genetics; D014842:von Willebrand Diseases / Q000175:diagnosis / Q000235:genetics*