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。 - Suppr

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超能文献

Family studies of a Lesch-Nyhan patient from an isolated Canadian community.

作者信息

Itiaba K, Banfalvi M, Crawhall J C, Mongeau J G

出版信息

Am J Hum Genet. 1973 Mar;25(2):134-40.

PMID:4689035

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1762516/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/6301/1762516/741e6d91f68e/ajhg00447-0019-a.jpg

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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.

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.

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.

Purine-nucleoside phosphorylase and adenosine amino-hydrolase activities in fibroblasts with the Lesch-Nyhan mutation.具有莱施-奈恩突变的成纤维细胞中的嘌呤核苷磷酸化酶和腺苷氨基水解酶活性。

Adv Exp Med Biol. 1977;76A:391-7.

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.

Adenine phosphoribosyl transferase deficiency in association with sub-normal hypoxanthine phophoribosyl transferase in families of Lesch--Nyhan patients.莱施-奈恩综合征患者家族中腺嘌呤磷酸核糖转移酶缺乏与次正常的次黄嘌呤磷酸核糖转移酶相关。

Biochem Med. 1978 Apr;19(2):252-9. doi: 10.1016/0006-2944(78)90027-3.

In vitro effects of magnesium ions on mutant cells from patients with the Lesch-Nyhan syndrome.镁离子对莱施-奈恩综合征患者突变细胞的体外作用。

N Engl J Med. 1973 Aug 30;289(9):446-50. doi: 10.1056/NEJM197308302890903.

Lesch-Nyhan mutation: the influence of population density on purine phosphoribosyltransferase activities and exogenous purine utilization in monolayer cultures of skin fibroblasts.

J Cell Physiol. 1972 Aug;80(1):33-40. doi: 10.1002/jcp.1040800105.

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.

Detection of the heterozygote in Lesch-Nyhan disease by hair-root analysis.通过发根分析检测莱施-尼汉病杂合子。

N Engl J Med. 1972 Feb 24;286(8):390-5. doi: 10.1056/NEJM197202242860802.

引用本文的文献

Lesch-Nyhan syndrome: molecular investigation of three French Canadian families using a hypoxanthine-guanine phosphoribosyltransferase cDNA probe.莱施-奈恩综合征：使用次黄嘌呤-鸟嘌呤磷酸核糖基转移酶cDNA探针对三个法裔加拿大家庭进行分子研究。

Hum Genet. 1988 Dec;81(1):4-8. doi: 10.1007/BF00283719.

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.

Half chromatid mutations: transmission in humans?半染色单体突变：在人类中的传递？

Am J Hum Genet. 1975 Mar;27(2):218-23.

本文引用的文献

Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。

J Biol Chem. 1951 Nov;193(1):265-75.

The enzymatic spectrophotometric method for determination of uric acid.用于测定尿酸的酶促分光光度法。

J Lab Clin Med. 1959 Dec;54:903-13.

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.

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.

Genetic studies of HG- PRT deficiency and the Lesch-Nyhan syndrome with cultured human cells.利用培养的人类细胞对次黄嘌呤鸟嘌呤磷酸核糖转移酶缺乏症和莱施-奈恩综合征进行的遗传学研究。

Fed Proc. 1971 May-Jun;30(3):944-55.

Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶缺乏症：在混合培养物和杂合子培养物中对突变型或正常培养成纤维细胞具有选择性的化学试剂。

Proc Natl Acad Sci U S A. 1971 Jul;68(7):1516-9. doi: 10.1073/pnas.68.7.1516.

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。

Proc Natl Acad Sci U S A. 1970 Jan;65(1):214-8. doi: 10.1073/pnas.65.1.214.

X-linked hypoxanthine-guanine phosphoribosyl transferase deficiency: heterozygote has two clonal populations.X连锁次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏症：杂合子有两个克隆群体。

Science. 1968 Apr 26;160(3826):425-7. doi: 10.1126/science.160.3826.425.

Variations in purine phosphoribosyl transferase enzymes during growth of fibroblast cell cultures.

Biochem Med. 1972 Dec;6(6):495-503. doi: 10.1016/0006-2944(72)90002-6.

Diagnosis and treatment of the Lesch-Nyhan syndrome.莱施-奈恩综合征的诊断与治疗。

Pediatr Res. 1972 May;6(5):504-13. doi: 10.1203/00006450-197205000-00004.

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