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酪氨酸酶阳性的眼皮肤白化病基因座与人的β-珠蛋白基因座不连锁。

The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man.

作者信息

Heim R A, Dunn D S, Candy S E, Zwane E, Kromberg J G, Jenkins T

机构信息

Department of Human Genetics, School of Pathology, South African Institute for Medical Research, Johannesburg.

出版信息

Hum Genet. 1988 May;79(1):89. doi: 10.1007/BF00291719.

DOI:10.1007/BF00291719
PMID:3130302
Abstract

Twenty informative families have been studied. and linkage between the tyrosinase-positive oculocutaneous albinism locus and the beta-globin locus has been excluded with a maximum lod score of -9.85 at 0 = 0.05. In lower mammals there is linkage between the p locus (considered to be equivalent to the human tyrosinase-positive oculocutaneous albinism) and the beta-globin locus.

摘要

已经研究了20个信息丰富的家系。在0 = 0.05时,酪氨酸酶阳性眼皮肤白化病基因座与β-珠蛋白基因座之间的连锁关系已被排除,最大对数优势得分为-9.85。在低等哺乳动物中,p基因座(被认为等同于人类酪氨酸酶阳性眼皮肤白化病)与β-珠蛋白基因座之间存在连锁关系。

相似文献

1
The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man.酪氨酸酶阳性的眼皮肤白化病基因座与人的β-珠蛋白基因座不连锁。
Hum Genet. 1988 May;79(1):89. doi: 10.1007/BF00291719.
2
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.
3
Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism.携带酪氨酸酶阳性眼皮肤白化病基因的黑人携带者的视觉诱发电位
J Med Genet. 1988 Dec;25(12):835-7. doi: 10.1136/jmg.25.12.835.
4
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.
5
Allelism in human oculocutaneous albinism.人类眼皮肤白化病中的等位基因现象。
Am J Hum Genet. 1981 May;33(3):479-80.
6
A study of murine albinism using tyrosinase cDNA.
Prog Clin Biol Res. 1988;256:263-71.
7
Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location.眼皮肤白化病中的毛囊酪氨酸酶活性:对通路控制和阻断位置的建议
Am J Med Genet. 1985 Jan;20(1):49-55. doi: 10.1002/ajmg.1320200108.
8
Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism.对患有眼皮肤白化病患者中与酪氨酸酶基因交叉杂交的DNA片段的分子分析。
Tohoku J Exp Med. 1989 Dec;159(4):333-40. doi: 10.1620/tjem.159.333.
9
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。
Biochem Biophys Res Commun. 1988 Aug 30;155(1):470-5. doi: 10.1016/s0006-291x(88)81110-0.
10
Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.排除位于11号染色体短臂的两个候选色素基因座c和b以及33个随机多态性标记作为酪氨酸酶阳性眼皮肤白化病的基因座。
Hum Genet. 1993 Jan;90(5):556-60. doi: 10.1007/BF00217458.

引用本文的文献

1
Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism.排除位于11号染色体短臂的两个候选色素基因座c和b以及33个随机多态性标记作为酪氨酸酶阳性眼皮肤白化病的基因座。
Hum Genet. 1993 Jan;90(5):556-60. doi: 10.1007/BF00217458.
2
Medical genetics in South Africa.南非的医学遗传学
J Med Genet. 1990 Dec;27(12):760-79. doi: 10.1136/jmg.27.12.760.
3
Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.

本文引用的文献

1
Linkage and polymorphism of a gene controlling lactate dehydrogenase in the rat.
Biochem Genet. 1983 Oct;21(9-10):933-41. doi: 10.1007/BF00483951.
2
DNA in heritable disease.遗传性疾病中的DNA
Lancet. 1983 Oct 1;2(8353):787-8. doi: 10.1016/s0140-6736(83)92314-0.
3
Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.人类家系中重组率的估计:人类连锁研究似然性的高效计算。
Am J Hum Genet. 1974 Sep;26(5):588-97.
J Med Genet. 1991 Jul;28(7):482-4. doi: 10.1136/jmg.28.7.482.
4
The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.小鼠粉红眼稀释位点:普拉德-威利综合征、安吉尔曼综合征及一种伊藤色素减退症的模型。
Mamm Genome. 1992;3(4):187-91. doi: 10.1007/BF00355717.
5
The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region.p基因座与普拉德-威利染色体区域一个基因的小鼠同源基因紧密连锁。
Mamm Genome. 1992;2(1):69-71. doi: 10.1007/BF00570442.
4
Inherited disorders of pigmentation.
Clin Dermatol. 1985 Jan-Mar;3(1):70-134. doi: 10.1016/0738-081x(85)90097-5.
5
Linkage of albino and hemoglobin beta-chain loci in the rabbit.家兔中白化基因与血红蛋白β链基因座的连锁
J Hered. 1987 Mar-Apr;78(2):124-5. doi: 10.1093/oxfordjournals.jhered.a110332.
6
Chromosomal mapping of beta-globin and albino loci in the domestic cat. A conserved mammalian chromosome group.家猫中β-珠蛋白和白化病基因座的染色体定位。一个保守的哺乳动物染色体组。
J Hered. 1986 Nov-Dec;77(6):374-8. doi: 10.1093/oxfordjournals.jhered.a110264.
7
A Taq 1 gamma-globin DNA polymorphism: an African-specific marker.
Hum Genet. 1986 Sep;74(1):90-2. doi: 10.1007/BF00278792.