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两个家族性地中海热(FMF)家族中的显性遗传。

Dominant inheritance in two families with familial Mediterranean fever (FMF).

作者信息

Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M

机构信息

Heller Institute of Medical Research, Sheba Medical Center, Tel-Aviv University Medical School, Tel-Hashomer, Israel.

出版信息

Am J Med Genet. 1995 Jul 3;57(3):455-7. doi: 10.1002/ajmg.1320570319.

Abstract

Familial Mediterranean fever (FMF) is an autosomal-recessive disease which affects almost exclusively people of Mediterranean and Middle Eastern origin. We examined the possibility of a dominant inheritance of FMF among our 3,000 patients in Israel. Two hundred forty FMF patients were members of 77 families in which the disease affected more than one generation. In 75 of these families the occurrence of FMF in more than one generation was found to be consistent with a recessive mode of inheritance due to a high gene frequency (q) and consanguinity among parents of the patients. In 2 families, one of Ashkenazi and the other of Georgian Iraqi origin, in which FMF occurred in 4 consecutive generations, the mode of inheritance could be explained only by autosomal-dominant inheritance.

摘要

家族性地中海热(FMF)是一种常染色体隐性疾病,几乎只影响地中海和中东地区血统的人。我们在以色列的3000名患者中研究了FMF显性遗传的可能性。240名FMF患者来自77个家庭,这些家庭中不止一代出现该疾病。在其中75个家庭中,由于基因频率高(q)以及患者父母之间的近亲关系,不止一代出现FMF的情况被发现与隐性遗传模式相符。在2个家庭中,一个是阿什肯纳兹人家庭,另一个是格鲁吉亚伊拉克人家庭,FMF在其中连续4代出现,其遗传模式只能用常染色体显性遗传来解释。

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