Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.
Regional localization of human gene loci on chromosome 9: studies of somatic cell hybrids containing human translocations.
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人类基因座在 9 号染色体上的区域定位：含有人类易位的体细胞杂交体的研究。
DOI：
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发表时间：
1979
影响因子：
9.8
通讯作者：
S. Funderburk
中科院分区：
文献类型：
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作者：
T. Mohandas;R. Sparkes;M. Sparkes;J. D. Shulkin;K. Toomey;S. Funderburk
体细胞杂种来源于（1）次黄嘌呤鸟嘌呤磷酸核糖转移酶（HPRT）缺陷的中国仓鼠细胞和携带X/9易位的人细胞的融合，以及（2）胸苷激酶（TK）缺陷的中国仓鼠细胞和携带17/9易位的人细胞的融合。从这两个系列的细胞杂交体中分离出几个独立的初级杂交克隆，对它们进行细胞遗传学分析，以确定人染色体的含量，并对已知在人9号染色体上的人标记物的表达进行遗传学分析。结果允许的酶半乳糖-1-磷酸尿苷转移酶（GALT），可溶性乌头酸酶（ACONs），和腺苷酸激酶-3（AK 3）的基因座分配到染色体9的短臂（p11到pter）和酶腺苷酸激酶-1（AK 1）的基因座分配到人类染色体9的长臂的远端（手q34）。早期的家族研究表明，AK 1基因座与ABO血型基因座和指甲-髌骨（Np）综合征基因座密切相关。因此，AK 1位点的区域定位允许AK 1-Np-ABO连锁群的定位。
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.