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1
Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.X连锁酶葡萄糖-6-磷酸脱氢酶和次黄嘌呤鸟嘌呤磷酸核糖基转移酶的连锁关系：复合杂合子雌性后代中的重组
Am J Hum Genet. 1974 Jul;26(4):512-22.
2
Studies on hair roots for carrier detection in hypoxanthine-quanine phosphoribosyl transferase deficiency.次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症携带者检测的发根研究。
Clin Genet. 1974;5(5):449-56. doi: 10.1111/j.1399-0004.1974.tb01718.x.
3
Family studies of a Lesch-Nyhan patient from an isolated Canadian community.对一名来自加拿大孤立社区的莱施-奈恩病患者的家族研究。
Am J Hum Genet. 1973 Mar;25(2):134-40.
4
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.
Clin Genet. 1973;4(4):353-9. doi: 10.1111/j.1399-0004.1973.tb01931.x.
5
Expression of two X-linked genes in human hair follicles of double heterozygotes.双杂合子人类毛囊中两个X连锁基因的表达
Proc Natl Acad Sci U S A. 1971 Jul;68(7):1425-7. doi: 10.1073/pnas.68.7.1425.
6
Inherited deficiency of hypoxanthine-guanine phosphoribosyltransferase in X-linked uric aciduria (the Lesch-Nyhan syndrome and its variants).X连锁尿酸尿症（莱施-奈恩综合征及其变异型）中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的遗传性缺乏。
Adv Hum Genet. 1976;6:75-163. doi: 10.1007/978-1-4615-8264-9_2.
7
A female case of the Leach-Nyhan syndrome.一例女性利奇-尼汉综合征病例。
Tohoku J Exp Med. 1982 Jul;137(3):275-82. doi: 10.1620/tjem.137.275.
8
Detection of heterozygous carriers of the Lesch-Nyhan syndrome by electrophoresis of hair root lysates.通过发根裂解物电泳检测莱施-奈恩综合征的杂合子携带者。
J Pediatr. 1973 Mar;82(3):472-8. doi: 10.1016/s0022-3476(73)80123-4.
9
Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.莱施-奈恩综合征：正常和突变型次黄嘌呤-鸟嘌呤磷酸核糖转移酶杂合子的红细胞中缺乏突变酶。
Biochem Genet. 1972 Feb;6(1):21-6. doi: 10.1007/BF00485961.
10
Isoenzymes of hypoxanthine-guanine-phosphoribosyl transferase in a family with partial deficiency of the enzyme.一个次黄嘌呤-鸟嘌呤磷酸核糖转移酶部分缺乏家族中的同工酶
Biochem Genet. 1972 Aug;7(1):73-85. doi: 10.1007/BF00487011.

引用本文的文献

1
Regional localization of the human factor IX gene by molecular hybridization.通过分子杂交对人凝血因子IX基因进行区域定位。
Hum Genet. 1983;65(2):207-8. doi: 10.1007/BF00286666.
2
Menkes kinky hair disease: a search for closely linked restriction fragment length polymorphism.门克斯卷发综合征：寻找紧密连锁的限制性片段长度多态性
Hum Genet. 1983;64(2):139-42. doi: 10.1007/BF00327110.
3
Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.构建完整的人类X染色体连锁图谱：利用一组体细胞杂种对16个克隆的单拷贝DNA序列进行区域定位。
Am J Hum Genet. 1984 Mar;36(2):265-76.
4
Old and new genetics help ordering loci at the telomere of the human X-chromosome long arm.新旧遗传学方法助力对人类X染色体长臂端粒处的基因座进行排序。
Hum Genet. 1984;65(3):295-9. doi: 10.1007/BF00286521.
5
Molecular genetics of the human X chromosome.人类X染色体的分子遗传学
J Med Genet. 1985 Aug;22(4):243-9. doi: 10.1136/jmg.22.4.243.
6
Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).X连锁智力迟钝的连锁研究：人类X染色体端粒区域的高频重组（脆性位点/连锁/重组/X染色体）
Hum Genet. 1985;70(3):249-55. doi: 10.1007/BF00273451.
7
The occurrence of new mutants in the X-linked recessive Lesch-Nyhan disease.X连锁隐性莱施-奈恩病中新突变的发生情况。
Am J Hum Genet. 1976 Mar;28(2):123-37.
8
Hypoxanthine-guanine phosphoribosyltransferase: mosaicism in the peripheral erythrocytes of heterozygote for a normal and a mutant enzyme.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：正常酶和突变酶杂合子外周红细胞中的镶嵌现象。
Biochem Genet. 1976 Aug;14(7-8):587-93. doi: 10.1007/BF00485837.

本文引用的文献

1
SELECTION OF HYBRIDS FROM MATINGS OF FIBROBLASTS IN VITRO AND THEIR PRESUMED RECOMBINANTS.体外成纤维细胞交配产生的杂种及其假定重组体的选择
Science. 1964 Aug 14;145(3633):709-10. doi: 10.1126/science.145.3633.709.
2
A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION.一种尿酸代谢与中枢神经系统功能的家族性疾病。
Am J Med. 1964 Apr;36:561-70. doi: 10.1016/0002-9343(64)90104-4.
3
DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS.葡萄糖-6-磷酸脱氢酶变异体杂合子的人类女性中两种细胞群体的证明。
Proc Natl Acad Sci U S A. 1963 Sep;50(3):481-5. doi: 10.1073/pnas.50.3.481.
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Gene action in the X-chromosome of the mouse (Mus musculus L.).小鼠（小家鼠）X染色体上的基因作用。
Nature. 1961 Apr 22;190:372-3. doi: 10.1038/190372a0.
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Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis.与一种X连锁人类神经疾病及嘌呤过度合成相关的酶缺陷。
Science. 1967 Mar 31;155(3770):1682-4. doi: 10.1126/science.155.3770.1682.
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Absence of mosaicism in the lymphocyte in X-linked congenital hyperuricosuria.X连锁先天性高尿酸尿症患者淋巴细胞中不存在嵌合体现象。
Life Sci. 1968 Jun 15;7(12):587-91. doi: 10.1016/0024-3205(68)90079-9.
7
The separation of adenine and hypoxanthine-guanine phosphoribosyl transferases isoenzymes by disc gel electrophoresis.通过圆盘凝胶电泳分离腺嘌呤和次黄嘌呤 - 鸟嘌呤磷酸核糖基转移酶同工酶。
Biochem Genet. 1971 Feb;5(1):81-90. doi: 10.1007/BF00485733.
8
Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.莱施-奈恩综合征：利用毛囊快速检测杂合子。
Science. 1971 May 7;172(3983):572-4. doi: 10.1126/science.172.3983.572.
9
X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: detection of heterozygotes by selective medium.X连锁次黄嘌呤-鸟嘌呤磷酸核糖转移酶缺乏症：通过选择培养基检测杂合子
Biochem Genet. 1970 Jun;4(3):377-83. doi: 10.1007/BF00485754.
10
Genetic inactivation of the alpha-galactosidase locus in carriers of Fabry's disease.法布里病携带者中α-半乳糖苷酶基因座的基因失活。
Science. 1970 Oct 9;170(3954):180-1. doi: 10.1126/science.170.3954.180.

Linkage relationships of X-linked enzymes glucose-6-phosphate dehydrogenase and hypoxanthine guanine phosphoribosyltransferase: recombination in female offspring of compound heterozygotes.

作者信息

Francke U, Bakay B, Connor J D, Coldwell J G, Nyhan W L

出版信息

Am J Hum Genet. 1974 Jul;26(4):512-22.

PMID:4842775
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762591/
Abstract
摘要