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利用涉及X-常染色体易位的体细胞杂种(小鼠-仓鼠-人类X连锁标记)对人类X连锁基因进行细胞遗传学定位。

Cytological mapping of human X-linked genes by use of somatic cell hybrids involving an X-autosome translocation (mouse-hamster-human X-linked markers).

作者信息

Grzeschik K H, Allderdice P W, Grzeschik A, Opitz J M, Miller O J, Siniscalco M

出版信息

Proc Natl Acad Sci U S A. 1972 Jan;69(1):69-73. doi: 10.1073/pnas.69.1.69.

DOI:10.1073/pnas.69.1.69
PMID:4500556
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC427546/
Abstract

Man-mouse and man-Syrian hamster somatic hybrid cell lines were prepared by fusion of mouse A9 or hamster TG2 cells, which are deficient in hypoxanthine-guanine phosphoribosyl transferase, with cells of a diploid fibroblastic strain, KOP-1, derived from a woman heterozygous for an X-autosome translocation. 61 clones were derived in nonselective medium and 85 sublines of these were derived in selective media: 53 in hypoxanthine-aminopterine-thymidine and 32 in 8-azaguanine. All three human X-linked markers studied, i.e., hypoxanthineguanine phosphoribosyl transferase (EC 2.4.2.8), glucose-6-phosphate dehydrogenase (EC 1.1.1.49), and phosphoglycerate kinase (EC 2.7.2.3), were present together, or absent together, in most of these clones and sublines. However, loss or retention of only phosphoglycerate kinase was occasionally observed, even in the absence of selective growth, while no evidence of separation of hypoxanthine-guanine phosphoribosyl transferase from glucose-6-phosphate dehydrogenase occurred. Cytological examination of eight man-hamster clonal lines by the quinacrine fluorescent technique showed that human phosphoglycerate kinase was only present when the translocation chromosome carrying most of the long arm of the X chromosome was present. The presence of human glucose-6-phosphate dehydrogenase and hypoxanthine-guanine phosphoribosyl transferase was not related to the presence or absence of this chromosome, but appeared to be correlated with the presence of the other translocation chromosome.

摘要

通过将缺乏次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶的小鼠A9细胞或仓鼠TG2细胞与源自一名X - 常染色体易位杂合女性的二倍体成纤维细胞系KOP - 1细胞融合,制备了人 - 小鼠和人 - 叙利亚仓鼠体细胞杂种细胞系。在非选择性培养基中获得了61个克隆,并在选择性培养基中获得了这些克隆的85个亚系:53个在次黄嘌呤 - 氨基蝶呤 - 胸腺嘧啶培养基中,32个在8 - 氮杂鸟嘌呤培养基中。所研究的所有三种人类X连锁标记,即次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶(EC 2.4.2.8)、葡萄糖 - 6 - 磷酸脱氢酶(EC 1.1.1.49)和磷酸甘油酸激酶(EC 2.7.2.3),在大多数这些克隆和亚系中要么同时存在,要么同时缺失。然而,即使在没有选择性生长的情况下,偶尔也会观察到仅磷酸甘油酸激酶的丢失或保留,而没有证据表明次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶与葡萄糖 - 6 - 磷酸脱氢酶分离。通过喹吖因荧光技术对8个人 - 仓鼠克隆系进行细胞学检查表明,只有当携带X染色体大部分长臂的易位染色体存在时,人类磷酸甘油酸激酶才会出现。人类葡萄糖 - 6 - 磷酸脱氢酶和次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶的存在与该染色体的存在与否无关,但似乎与另一个易位染色体的存在相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee95/427546/b29637bf4020/pnas00127-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee95/427546/a1f91d824e8b/pnas00127-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee95/427546/8dd8314c1816/pnas00127-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee95/427546/b29637bf4020/pnas00127-0078-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee95/427546/a1f91d824e8b/pnas00127-0076-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee95/427546/8dd8314c1816/pnas00127-0077-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ee95/427546/b29637bf4020/pnas00127-0078-a.jpg

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HYBRID CELLS DERIVED FROM MOUSE AND MAN: ARTIFICIAL HETEROKARYONS OF MAMMALIAN CELLS FROM DIFFERENT SPECIES.源自小鼠和人类的杂交细胞:不同物种哺乳动物细胞的人工异核体
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Genetics of human cell line. IV. DNA-mediated heritable transformation of a biochemical trait.人类细胞系的遗传学。IV. 生物化学性状的DNA介导的可遗传转化
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Assignment of three gene loci (PGK, HGPRT, G6PD) to the long arm of the human X chromosome by somatic cell genetics.
通过体细胞遗传学将三个基因位点(磷酸甘油酸激酶、次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶、葡萄糖 -6- 磷酸脱氢酶)定位于人类 X 染色体长臂。
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X inactivation in man: a woman with t(Xq--;12q+).人类的X染色体失活:一名患有t(Xq--;12q+)的女性。
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Restoration of hypoxanthine phosphoribosyl transferase activity in mouse 1R cells after fusion with chick-embryo fibroblasts.与鸡胚成纤维细胞融合后小鼠1R细胞中次黄嘌呤磷酸核糖基转移酶活性的恢复。
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Abnormal X chromosomes in man: origin, behavior and effects.人类异常X染色体:起源、行为及影响
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Syrian hamster-human somatic cell hybrids: isolation and characterization.叙利亚仓鼠-人类体细胞杂种:分离与鉴定
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Reexpression of the rat hypoxanthine phosphoribosyltransferase gene in rat-human hybrids.大鼠次黄嘌呤磷酸核糖基转移酶基因在大鼠-人杂种细胞中的重新表达。
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Utilization of somatic cell hybrids for genetic studies in man.利用体细胞杂种进行人类遗传学研究。
Humangenetik. 1973;19(1):1-40. doi: 10.1007/BF00295233.
与红细胞和白细胞中磷酸甘油酸激酶缺乏相关的遗传性溶血性贫血。一种可能的X染色体连锁综合征。
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Phosphoglycerate kinase: an X-linked polymorphism in man.磷酸甘油酸激酶:人类中的一种X连锁多态性。
Am J Hum Genet. 1971 Jan;23(1):87-91.
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Genetics of somatic mammalian cells: linkage studies with human-Chinese hamster cell hybrids.体细胞哺乳动物细胞遗传学:与人类-中国仓鼠细胞杂交体的连锁研究。
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Loss of human genetic markers in man--Chinese hamster somatic cell hybrids.人类遗传标记在人-中国仓鼠体细胞杂种中的丢失
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Linkage relationships of seventeen human gene loci as determined by man--mouse somatic cell hybrids.通过人-小鼠体细胞杂种确定的17个人类基因位点的连锁关系。
Nat New Biol. 1971 Jul 21;232(29):69-73. doi: 10.1038/newbio232069a0.
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Mitotic separation of two human X-linked genes in man--mouse somatic cell hybrids.人-小鼠体细胞杂种中两个人类X连锁基因的有丝分裂分离
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Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome.莱施-奈恩综合征杂合子红细胞中葡萄糖-6-磷酸脱氢酶的半合子表达。
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Human-mouse hybrid cell lines containing partial complements of human chromosomes and functioning human genes.含有部分人类染色体互补物和功能性人类基因的人-鼠杂交细胞系。
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