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Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.

作者信息

Kikuchi H, Hara S, Ishiguro S, Tamai M, Watanabe M

机构信息

Laboratory of Cancer Chemotherapy and Prevention, Research Institute for Tuberculosis and Cancer, Sendai, Japan.

出版信息

Hum Genet. 1990 Jun;85(1):123-4. doi: 10.1007/BF00276337.

DOI:10.1007/BF00276337
PMID:2113511
Abstract

Enzymatic DNA amplification and direct DNA sequencing were used to detect a mutation in the tyrosinase gene of an albino patient. Single-base change could be detected by direct sequencing. This base change (G to A) is thought to result in an amino acid change (Arg to Gln) in tyrosinase of the patient.

摘要

相似文献

1
Detection of point mutation in the tyrosinase gene of a Japanese albino patient by a direct sequencing of amplified DNA.
Hum Genet. 1990 Jun;85(1):123-4. doi: 10.1007/BF00276337.
2
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene.由酪氨酸酶基因单碱基插入引起的人类眼皮肤白化病。
Biochem Biophys Res Commun. 1989 Nov 15;164(3):990-6. doi: 10.1016/0006-291x(89)91767-1.
3
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.经典型酪氨酸酶阴性（IA型）眼皮肤白化病中常见的酪氨酸酶基因突变。
Proc Natl Acad Sci U S A. 1990 May;87(9):3255-8. doi: 10.1073/pnas.87.9.3255.
4
Identification of the albino mutation of mouse tyrosinase by analysis of an in vitro revertant.通过体外回复突变体分析鉴定小鼠酪氨酸酶的白化突变
Proc Natl Acad Sci U S A. 1990 Sep;87(18):7010-4. doi: 10.1073/pnas.87.18.7010.
5
A point mutation in the tyrosinase gene of BALB/c albino mouse causing the cysteine----serine substitution at position 85.BALB/c白化小鼠酪氨酸酶基因中的一个点突变导致第85位的半胱氨酸被丝氨酸取代。
Eur J Biochem. 1990 Apr 30;189(2):455-61. doi: 10.1111/j.1432-1033.1990.tb15510.x.
6
Rescue of the albino phenotype by introduction of a functional tyrosinase gene into mice.通过将功能性酪氨酸酶基因导入小鼠来拯救白化病表型。
EMBO J. 1990 Sep;9(9):2819-26. doi: 10.1002/j.1460-2075.1990.tb07470.x.
7
Characteristic sequences in the upstream region of the human tyrosinase gene.人类酪氨酸酶基因上游区域的特征序列。
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8
A study of murine albinism using tyrosinase cDNA.
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Molecular basis of mouse Himalayan mutation.小鼠喜马拉雅突变的分子基础。
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Expression of tyrosinase gene in amelanotic mutant mice.酪氨酸酶基因在无黑色素突变小鼠中的表达。
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引用本文的文献

1
Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?拓展眼皮肤白化病谱：孤立性黄斑发育不良真的存在吗？
Int J Mol Sci. 2022 Jul 15;23(14):7825. doi: 10.3390/ijms23147825.
2
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.与波多黎各I-A型（酪氨酸酶阴性）眼皮肤白化病相关的常见酪氨酸酶基因突变。
Am J Hum Genet. 1993 Jan;52(1):17-23.
3
The tyrosinase-related protein-1 gene has a structure and promoter sequence very different from tyrosinase.

本文引用的文献

1
Albinism.白化病。
Adv Hum Genet. 1971;2:61-142.
2
Albinism.白化病。
Surv Ophthalmol. 1985 Sep-Oct;30(2):75-101. doi: 10.1016/0039-6257(85)90077-3.
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Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA.通过对体外扩增的互补DNA（cDNA）进行自动直接DNA测序来鉴定导致莱施-奈恩综合征的突变。
酪氨酸酶相关蛋白-1基因具有与酪氨酸酶非常不同的结构和启动子序列。
Nucleic Acids Res. 1991 Jul 25;19(14):3799-804. doi: 10.1093/nar/19.14.3799.
4
Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism.IA型眼皮肤白化病中酪氨酸酶基因的三种不同移码突变。
Am J Hum Genet. 1991 Jul;49(1):199-206.
5
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism.与1B型（“黄色”）眼皮肤白化病相关的酪氨酸酶基因突变。
Am J Hum Genet. 1991 Jun;48(6):1159-67.
6
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse.温度敏感型I型眼皮肤白化病中的酪氨酸酶基因错义突变。一种与暹罗猫和喜马拉雅小鼠同源的人类基因。
J Clin Invest. 1991 Mar;87(3):1119-22. doi: 10.1172/JCI115075.
7
Homozygous tyrosinase gene mutation in an American black with tyrosinase-negative (type IA) oculocutaneous albinism.一名患有酪氨酸酶阴性（IA型）眼皮肤白化病的美国黑人中酪氨酸酶基因突变纯合子。
Am J Hum Genet. 1991 Feb;48(2):318-24.
8
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism.患有酪氨酸酶阴性（IA型）眼皮肤白化病的阿富汗患者酪氨酸酶基因中的无义突变。
J Med Genet. 1991 Jul;28(7):464-7. doi: 10.1136/jmg.28.7.464.
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A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity.人类酪氨酸酶基因的多态性与温度敏感的酶活性相关。
Gene Expr. 1991 May;1(2):103-10.
10
A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus.第二种酪氨酸酶相关蛋白TRP-2定位于小鼠石板色基因座并在该基因座发生突变。
EMBO J. 1992 Feb;11(2):527-35. doi: 10.1002/j.1460-2075.1992.tb05083.x.
Proc Natl Acad Sci U S A. 1989 Mar;86(6):1919-23. doi: 10.1073/pnas.86.6.1919.
4
Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus.定位在小鼠c-白化病基因座上的人类酪氨酸酶cDNA克隆的分离与测序。
Proc Natl Acad Sci U S A. 1987 Nov;84(21):7473-7. doi: 10.1073/pnas.84.21.7473.
5
Characteristic sequences in the upstream region of the human tyrosinase gene.人类酪氨酸酶基因上游区域的特征序列。
Biochim Biophys Acta. 1989 Dec 22;1009(3):283-6. doi: 10.1016/0167-4781(89)90115-2.
6
Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.使用热稳定DNA聚合酶进行引物引导的DNA酶促扩增。
Science. 1988 Jan 29;239(4839):487-91. doi: 10.1126/science.2448875.
7
DNA sequencing with chain-terminating inhibitors.使用链终止抑制剂的DNA测序。
Proc Natl Acad Sci U S A. 1977 Dec;74(12):5463-7. doi: 10.1073/pnas.74.12.5463.
8
A convenient method of establishing permanent lines of xeroderma pigmentosum cells.一种建立色素性干皮病细胞永久系的简便方法。
Cancer Res. 1978 Feb;38(2):253-6.