人类转铁蛋白受体基因的区域定位在3q26.2至qter。
Regional localization of the human transferrin receptor gene to 3q26.2----qter.
作者信息
Rabin M, McClelland A, Kühn L, Ruddle F H
出版信息
Am J Hum Genet. 1985 Nov;37(6):1112-6.
Abstract
Transport of iron across the cell membrane is mediated by the iron-binding serum protein, transferrin, and its cell-surface receptor. Transferrin receptor is required for cell proliferation and may play a functional role in the pathogenesis of iron-storage disorders and some neoplasias. To better understand the possible involvement of transferrin receptor in such disorders, we have determined the chromosomal locus of the receptor gene by in situ hybridization. The human transferrin receptor gene was thus mapped to 3q26.2----qter, a region of chromosome 3 that appears to be involved in metal transport and that is subject to nonrandom structural rearrangements associated with neoplasia.
摘要
铁穿过细胞膜的转运由铁结合血清蛋白、转铁蛋白及其细胞表面受体介导。转铁蛋白受体是细胞增殖所必需的，并且可能在铁储存障碍和某些肿瘤的发病机制中发挥功能性作用。为了更好地理解转铁蛋白受体在这些疾病中可能的参与情况，我们通过原位杂交确定了该受体基因的染色体定位。因此，人类转铁蛋白受体基因被定位到3q26.2----qter，这是3号染色体上的一个区域，似乎与金属转运有关，并且会发生与肿瘤相关的非随机结构重排。
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