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一个患有囊性纤维化的家族中的转铁蛋白变异体。

A transferrin variant in a kindred with cystic fibrosis.

作者信息

Bowman B H, Barnett D R, Coppenhaver D

出版信息

Hum Hered. 1981;31(4):248-51. doi: 10.1159/000153217.

Abstract

An electrophoretically fast transferrin (Tf) variant, TfB, was found in a cystic fibrosis homozygote. Since neither cystic fibrosis nor the transferrin structural gene has been mapped on human chromosomes, a study was made of this kindred. Genetic markers including ABO, MN, Rh, Fy blood groups and Tf, group-specific component, and haptoglobin serum protein polymorphisms were determined in available members of the kindred. The genes for cystic fibrosis and Tf appear to segregate independently in the kindred, although crossing-over between linked genes in the homozygous cystic fibrosis brother of the propositus could account for the genotypes observed.

摘要

在一名囊性纤维化纯合子中发现了一种电泳快速转铁蛋白(Tf)变体TfB。由于囊性纤维化和转铁蛋白结构基因均未在人类染色体上定位,因此对该家族进行了研究。在该家族的现有成员中确定了包括ABO、MN、Rh、Fy血型以及Tf、组特异性成分和触珠蛋白血清蛋白多态性在内的遗传标记。尽管先证者的纯合囊性纤维化兄弟中连锁基因之间的交换可以解释所观察到的基因型,但囊性纤维化基因和Tf基因在该家族中似乎是独立分离的。

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