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对一个患有椭圆形红细胞增多症、多发性脂肪瘤且梅毒血清学检测出现生物学假阳性的大家族的分析。

Analysis of a large pedigree with elliptocytosis, multiple lipomatosis, and biological false-positive serological test for syphilis.

作者信息

Weinberg J B, Hasstedt S J, Skolnick M H, Kimberling W J, Baty B

出版信息

Am J Med Genet. 1980;5(1):57-67. doi: 10.1002/ajmg.1320050108.

Abstract

Elliptocytosis, multiple lipomatosis, and biological false-postive serological test for syphilis (BFPSTS) were found in a single individual. One hundred eighty relatives were tested for the three diseases: 74 were typed for seven blood group antigens, and 58 were typed for four electrophoretic enzyme markers. Likelihood analysis of the pedigree data confirmed independent dominant inheritance for elliptocytosis and lipomatosis. BFPSTS appears dominant, but the analysis was inconclusive. No linkages were found between any disease gene and any marker gene. Two female pedigree members with BFPSTS developed systemic lupus erythematosus, a finding in agreement with the previously described association. The analysis did not lead to any conclusions about the causal relationship between the two traits.

摘要

在一名个体中发现了椭圆形红细胞增多症、多发性脂肪瘤以及梅毒生物学假阳性血清学检测(BFPSTS)。对180名亲属进行了这三种疾病的检测:74人进行了7种血型抗原分型,58人进行了4种电泳酶标记物分型。系谱数据分析的似然性分析证实椭圆形红细胞增多症和脂肪瘤为独立显性遗传。BFPSTS似乎为显性,但分析结果尚无定论。未发现任何疾病基因与任何标记基因之间存在连锁关系。两名患有BFPSTS的女性系谱成员患了系统性红斑狼疮,这一发现与先前描述的关联相符。该分析未得出关于这两种性状之间因果关系的任何结论。

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