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莱施-奈恩综合征：利用毛囊快速检测杂合子。

Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles.

作者信息

Gartler S M, Scott R C, Goldstein J L, Campbell B

出版信息

Science. 1971 May 7;172(3983):572-4. doi: 10.1126/science.172.3983.572.

DOI:10.1126/science.172.3983.572
PMID:5555078
Abstract

A method is described which permits rapid phenotypic diagnosis of the Lesch-Nyhan heterozygote by direct assay of hypoxanthine guanine phosphori-bosyltransferase activity in single hair follicles obtained from the scalp.

摘要

本文描述了一种方法，该方法可通过直接检测从头皮获取的单个毛囊中的次黄嘌呤鸟嘌呤磷酸核糖基转移酶活性，对莱施-奈恩杂合子进行快速表型诊断。

相似文献

1
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.
2
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.
3
[Self mutilation of the lower lip, associated with athetosis and oligophrenia without purine metabolism disorder ("pseudo Lesch-Nyhan syndrome")].[下唇自残，伴手足徐动症和智力发育迟缓，无嘌呤代谢紊乱（“假性莱施-奈恩综合征”）]
Hautarzt. 1973 Apr;24(4):158-60.
4
The Lesch-Nyhan syndrome: report of three cases.莱施-奈恩综合征：三例报告。
Aust N Z J Med. 1972 Feb;2(1):57-64. doi: 10.1111/j.1445-5994.1972.tb03909.x.
5
Hypoxanthine-guanine phosphoribosyltransferase: characteristics of the mutant enzyme in erythrocytes from patients with the Lesch-Nyhan syndrome.次黄嘌呤-鸟嘌呤磷酸核糖转移酶：莱施-奈恩综合征患者红细胞中突变酶的特征
J Clin Invest. 1972 Jul;51(7):1805-12. doi: 10.1172/JCI106982.
6
Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity.莱施-奈恩综合征患者成纤维细胞中次黄嘌呤-鸟嘌呤磷酸核糖转移酶的研究。遗传异质性的证据。
J Biol Chem. 1971 May 10;246(9):2953-8.
7
Preventive control of the Lesch-Nyhan syndrome.莱施-奈恩综合征的预防性控制
Obstet Gynecol. 1972 Jul;40(1):109-13.
8
The Lesch-Nyhan syndrome. First case description in a South African family.莱施-奈恩综合征。南非一个家族中的首例病例描述。
S Afr Med J. 1972 Jul 8;46(28):947-9.
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.
10
[Lesch-Nyhan syndrome: a new variant with hypoxanthine-guanine phosphoriboxyl transferase activity higher than the classical disease and detection of the heterozygote trait in the erythrocytes of the carrier].
Med Clin (Barc). 1985 Jan 19;84(2):68-71.

引用本文的文献

1
Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene.采用实时聚合酶链反应和连锁分析来鉴定携带次黄嘌呤磷酸核糖转移酶缺失基因的携带者。
Mol Med. 2006 Sep-Oct;12(9-10):246-51. doi: 10.2119/2005-00046.Lapucci.
2
Noninvasive test for fragile X syndrome, using hair root analysis.使用发根分析对脆性X综合征进行无创检测。
Am J Hum Genet. 1999 Jul;65(1):98-103. doi: 10.1086/302462.
3
Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells.
在莱施-奈恩杂合子中，针对缺乏次黄嘌呤磷酸核糖基转移酶（HPRT）的血细胞的选择发生在多能干细胞水平。
Hum Genet. 1995 Dec;96(6):674-80. doi: 10.1007/BF00210298.
4
Protein biosynthesis in cultured human hair follicle cells.培养的人毛囊细胞中的蛋白质生物合成
Mol Biol Rep. 1980 Oct 31;6(3):153-8. doi: 10.1007/BF00775409.
5
High-resolution protein mapping of human fibroblasts and hair root cells: a standardized reproducible procedure considering the effect of cell culture parameters.人类成纤维细胞和发根细胞的高分辨率蛋白质图谱：一种考虑细胞培养参数影响的标准化可重复程序。
Biochem Genet. 1981 Oct;19(9-10):871-80. doi: 10.1007/BF00504252.
6
Evidence for the derivation of individual hair roots from three progenitor cells.
Hum Genet. 1981;58(4):414-6. doi: 10.1007/BF00282826.
7
Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning.通过淋巴细胞克隆检测X连锁疾病——莱施-尼汉综合征的携带者状态。
Hum Genet. 1983;64(3):288-90. doi: 10.1007/BF00279414.
8
Hair root analysis in X-linked ichthyosis.
J Inherit Metab Dis. 1983;6(4):173-7. doi: 10.1007/BF02310876.
9
Human hypoxanthine-guanine phosphoribosyltransferase. Detection of a mutant allele by restriction endonuclease analysis.人次黄嘌呤 - 鸟嘌呤磷酸核糖转移酶。通过限制性内切酶分析检测突变等位基因。
J Clin Invest. 1983 Sep;72(3):767-72. doi: 10.1172/JCI111047.
10
Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology.1979年赫伯登演讲：嘌呤代谢的人类异常及其对风湿病学的意义。
Ann Rheum Dis. 1980 Apr;39(2):103-17. doi: 10.1136/ard.39.2.103.