[Zhonghua yan ke za zhi] Chinese journal of ophthalmology · 1989
[The blood galactokinase activity in Chinese with reference to congenital cataract].
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Xu G T
Аннотация
The galactokinase (GK) activity of whole blood in Chinese volunteers and patients with congenital cataracts was studied by radioassay after Beutler. The GK activity was found to be highest 78.42 +/- 22.01 mU/g.Hb, in the newborn, and is decreased with age up to 4 years to remain constant thereafter at a mean normal value of 27.79 +/- 4.98 mU/g.Hb, which was consistent with Beutler's results. The frequency of GK heterozygotes in normal Chinese was found to be 1/234(0.43%). Among 55 children with congenital cataracts developed during the first year after birth, 4 (7.30%) were heterozygotes. Furthermore, the frequency of heterozygotes was found to be 3/16 (18.80%) in infants with nuclear cataracts, which differed very significantly from that of the normal Chinese. The probable association of congenital cataracts with decreased GK activity was discussed.