Berg J N, Guttmacher A E, Marchuk D A, Porteous M E
Human Genetics Unit, University of Edinburgh, UK.
J Med Genet. 1996 Mar;33(3):256-7. doi: 10.1136/jmg.33.3.256.
Pulmonary arteriovenous malformations (PAVMs) occur in up to 27% of patients with hereditary haemorrhagic telangiectasia (HHT) and are associated with a rate of paradoxical cerebral embolism at presentation of up to 36%. At least two different loci have been shown for HHT. Mutations in endoglin have been found in some families and the locus designated ORW1. In other families this locus has been excluded. In this paper we confirm that in families linked to ORW1 there is a prevalence of PAVMs among affected members of 29.2%, compared to a prevalence of 2.9% in families in which this locus has been excluded (chi 2 = 19.2, p < 0.001). This information can be used to decide how to screen HHT patients for PAVMs.
肺动静脉畸形（PAVM）见于高达27%的遗传性出血性毛细血管扩张症（HHT）患者，且与高达36%的矛盾性脑栓塞发生率相关。已发现HHT至少有两个不同的基因座。在一些家族中发现了内皮素基因突变，该基因座命名为ORW1。在其他家族中，该基因座已被排除。在本文中，我们证实与ORW1连锁的家族中，患病成员的PAVM患病率为29.2%，而该基因座已被排除的家族中患病率为2.9%（χ2 = 19.2，p < 0.001）。这些信息可用于决定如何对HHT患者进行PAVM筛查。
