Muller J Y, Michailov T, Izrael V, Bernard J
Nouv Presse Med. 1978 May 20;7(20):1723-5.
Study of a large family in the Sahara led to the discovery of 87 cases of hereditary haemorrhagic telangiectasia in six generations. This disease had not previously been described in Arab families. The particular structure of this family and the high incidence of consanguinity made it possible to study one individual who was homozygous for hereditary haemorrhagic telangiectasia gene. Examination of the family tree confirms the autosomal dominant transmission of the disorder.
对撒哈拉地区一个大家庭的研究发现，在六代人中共有87例遗传性出血性毛细血管扩张症病例。此前阿拉伯家庭中尚未有过这种疾病的描述。该家族的特殊结构以及较高的近亲结婚率使得研究一名遗传性出血性毛细血管扩张症基因纯合个体成为可能。对家族谱系的检查证实了该疾病的常染色体显性遗传。
