BLOOD CELL GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN DYSPLASTIC PATIENTS, WITH AND WITHOUT CHROMOSOMAL ABERRATIONS

被引：8

作者：

DAHLQVIST, A

HALL, B

KALLEN, B

机构：

[1] Research Department of the Hospital, Institute of Genetics, Department of Paediatrics, Institute of Embryology, University of Lund, Lund

来源：

HUMAN HEREDITY | 1969年 / 19卷 / 06期

关键词：

D O I：

10.1159/000152277

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Galactose-1-phosphate uridyl transferase activity has been studied in blood cells from six groups of subjects with and without cytogenetical abnormalities. Increased values were found in three of the groups: mongoloids, patients with Cornelia de Lange’s syndrome, and non-mongoloid patients with autosomal aberrations. The mongoloids had the highest values. Dysplastic infants with normal chromosomes also showed higher mean value than the control group, but the difference was only possibly statistically significant. Oligophrenic patients without dysplastic features showed the same values as found in the control group. © 1969 S. Karger AG, Basel.

引用

页码：628 / +

页数：1

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