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对一个患有弗莱彻因子缺乏症的新家族进行人类白细胞抗原分型。

HLA typing in a new family with Fletcher factor deficiency.

作者信息

Raffoux C, Alexandre P, Perrier P, Briquel M E, Streiff F

出版信息

Hum Genet. 1982;60(1):71-3. doi: 10.1007/BF00281268.

Abstract

In a nonrelated white family, the Fletcher factor level in the father was 0.41 U/ml and in the mother, 0.30 U/ml (controls, 0.75-1.25 U/ml). One sibling with recurrent epistaxis had a level of 0.012 U/ml, whereas the other without tendency to spontaneous bleeding had levels between 0.75 and 0.32 U/ml. This suggests autosomal recessive transmission with clinical symptoms when the defect is homozygous. HLA antigens were studied to determine whether characters of the histocompatibility system and this defect are linked: we determined that the gene(s) of the disease is (are) not shared on the HLA complex.

摘要

在一个无血缘关系的白人家庭中,父亲的弗莱彻因子水平为0.41 U/ml,母亲为0.30 U/ml(对照组为0.75 - 1.25 U/ml)。一名反复鼻出血的兄弟姐妹因子水平为0.012 U/ml,而另一名无自发出血倾向的兄弟姐妹因子水平在0.75至0.32 U/ml之间。这表明该缺陷为纯合子时,呈常染色体隐性遗传并伴有临床症状。研究了HLA抗原,以确定组织相容性系统的特征与该缺陷是否相关联:我们确定该疾病的基因不在HLA复合体上。

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