A de novo and heterozygous gene deletion causing a variant of von Willebrand disease.

摘要: An abnormal von Willebrand factor (vWF) gene restriction pattern has been found in a patient with disease. Because this alteration is not present his parents or 50 normal and 25 affected subjects, the fragment length polymorphism haplotypes are inherited normally patient's family, we suggest that de novo mutation present. Bands reduced intensity additional fragments, observed several digests, hybridize noncontiguous copy DNA (cDNA) portions, thus indicating presence of heterozygous deletion. The deletion removes genomic region containing at least codons 1147 through 1854 corresponding to D3-A3 homologous protein domains. extent vWF pseudogene on chromosome 22 roughly similar deleted area. However, pseudogenic nature excluded by mapping bands true gene. antigen levels one fourth ristocetin cofactor activity severely impaired. reduction high molecular weight multimers plasma platelets altered triplet morphology compatible dominant variant type II