CLONING OF THE GALACTOKINASE CDNA AND IDENTIFICATION OF MUTATIONS IN 2 FAMILIES WITH CATARACTS

被引：77

作者：

STAMBOLIAN, D

AI, YJ

SIDJANIN, D

NESBURN, K

SATHE, G

ROSENBERG, M

BERGSMA, DJ

机构：

[1] UNIV PENN,SCH MED,DEPT GENET,PHILADELPHIA,PA 19104

[2] SMITH KLINE BEECHAM PHARMACEUT,DEPT MOLEC GENET,KING OF PRUSSIA,PA 19046

来源：

NATURE GENETICS | 1995年 / 10卷 / 03期

关键词：

D O I：

10.1038/ng0795-307

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Galactokinase is an essential enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. We have cloned the human galactokinase cDNA, which maps to chromosome 17q24, and show that the isolated cDNA expresses galactokinase activity in bacteria and mammalian cells. We also describe two different mutations in this gene in unrelated families with galactokinase deficiency and cataracts. The availability of the cloned galactokinase gene provides an important reference to identify mutations in patients with galactokinase deficiency and cataracts.

引用

页码：307 / 312

页数：6

共 36 条

[1]

Foster A., Johnson G.J., Magnitude and causes of blindness in the developing world, Int. Ophthalmol, 14, pp. 135-140, (1990)

[2]

Segal S., Disorders of Galactose Metabolism, The Metabolic Basis of Inherited Disease, 1, pp. 453-480, (1989)

[3]

Gitzelmann R., Deficiency of erythrocyte galactokinase in a patient with galactose diabetes, Lancet, 2, pp. 670-671, (1965)

[4]

Stambolian D., Galactose and cataract, Survey of Ophthalmol, 32, pp. 333-349, (1988)

[5]

Tedesco T.A., Et al., The Philadelphia variant of galactokinase, Am. J. hum. Genet, 29, pp. 240-247, (1977)

[6]

Magnani M., Cucchiarini L., Dacha M., Fornaini G., A new variant of galactokinase, Hum. Hered, 32, pp. 329-334, (1982)

[7]

Tedesco T.A., Et al., A variant of human galactokinase with elevated activity, Pediatr. Res, 7, (1973)

[8]

Tedesco T.A., Et al., Human erythrocyte galactokinase and galactose-1-phosphate uridylyltransferase: A population survey, Am. J. hum. Genet, 27, pp. 737-747, (1975)

[9]

Segal S., Rutman J.Y., Frimpter G.W., Galactokinase deficiency and mental retardation, J. Pediatr, 95, pp. 750-752, (1979)

[10]

Stambolian D., Scarpino-Myers V., Eagle R.C., Hodes B., Harris H., Cataracts in patients heterozygous for galactokinase deficiency, Invest. Ophthal. Vis. Sci, 27, pp. 429-433, (1986)

← 1 2 3 4 →