[Clinical and genetic analysis of a severe vWD pedigree].
OBJECTIVE
To investigate clinical features and analyse defect gene transmission in a severe vWD pedigree.


METHODS
Phenotypes of a severe hemorrhagic pedigree including 26 family members of four generations were diagnosed with vWF multimer banding and ELISA. Defective gene transmission among the family members was investigated with a series of RFLP and VNTR loci within vWF gene.


RESULTS
For the proband, plasma vWF:Ag was less than 2%, and multimer banding was negative. Gene analysis showed that she carried 2 different defective vWF haplotypes from her parents. The family members carrying one of the defective haplotypes showed normal or slight decrease of vWF:Ag and normal multimer banding pattern.


CONCLUSIONS
1. The proband could be regarded as a putative compound heterozygote of type 3 vWD. The defect vWF gene carried by heterozygote family members could be compensated by a normal allele. 2. DNA analysis based on polymorphism markers within vWF gene has practical values in genetic consulting of severe vWD pedigrees.
Yu
L
L
Shanghai Institute of Hemotology, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025.
Wang
H
H
Du
L
L
D000293:Adolescent; D000328:Adult; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D018598:Minisatellite Repeats; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D017422:Sequence Analysis, DNA; D014842:von Willebrand Diseases / Q000235:genetics*; D014841:von Willebrand Factor / Q000235:genetics*
D014841:von Willebrand Factor