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人类9号染色体上基因位点的区域定位:对含人类易位的体细胞杂种的研究

Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.

作者信息

Mohandas T, Sparkes R S, Sparkes M C, Shulkin J D, Toomey K E, Funderburk S J

出版信息

Am J Hum Genet. 1979 Sep;31(5):586-600.

Abstract

Somatic cell hybrids were derived from the fusion of (1) Chinese hamster cells deficient in hypoxanthine guanine phosphoribosyltransferase (HPRT) and human cells carrying an X/9 translocation and (2) Chinese hamster cells deficient in thymidine kinase (TK) and human cells carrying a 17/9 translocation. Several independent primary hybrid clones from these two series of cell hybrids were analyzed cytogenitically for human chromosome content and electrophoretically for the expression of human markers known to be on human chromosome 9. The results allow the assignment of the loci for the enzymes galactose-1-phosphate uridyltransferase (GALT), soluble aconitase (ACONs), and adenylate kinase-3 (AK3) to the short arm of chromosome 9 (p11 to pter) and the locus for the enzyme adenylate kinase-1 (AK1) to the distal end of the long arm of human chromosome 9 (hand q34). Earlier family studies have shown that the locus for AK1 is closely linked to the ABO blood group locus and to the locus of the nail-patella (Np) syndrome. Thus the regional localization of AK1 locus permits the localization of the AK1-Np-ABO linkage group.

摘要

体细胞杂种源自以下两种细胞的融合

(1)缺乏次黄嘌呤鸟嘌呤磷酸核糖转移酶(HPRT)的中国仓鼠细胞与携带X/9易位的人类细胞;(2)缺乏胸苷激酶(TK)的中国仓鼠细胞与携带17/9易位的人类细胞。对这两个系列细胞杂种的几个独立的初级杂种克隆进行了细胞遗传学分析,以确定人类染色体含量,并进行电泳分析,以检测已知位于人类9号染色体上的人类标记物的表达。结果表明,半乳糖-1-磷酸尿苷转移酶(GALT)、可溶性乌头酸酶(ACONs)和腺苷酸激酶-3(AK3)的基因座定位于9号染色体短臂(p11至pter),而腺苷酸激酶-1(AK1)的基因座定位于人类9号染色体长臂远端(q34)。早期的家系研究表明,AK1的基因座与ABO血型基因座以及指甲-髌骨(Np)综合征的基因座紧密连锁。因此,AK1基因座的区域定位使得AK1-Np-ABO连锁群得以定位。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a383/1685904/e0b7eb538cc6/ajhg00197-0060-a.jpg

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