RELATIONSHIP BETWEEN ALPHA-L-FUCOSIDASE DEFICIENCY IN PLASMA AND ALPHA-L-FUCOSIDASE ACTIVITY IN LEUKOCYTES

被引：20

作者：

GATTI, R ^{[1
]}

CAVALIERI, S ^{[1
]}

ROMEO, G ^{[1
]}

机构：

[1] IST GENET,I-40126 BOLOGNA,ITALY

来源：

HUMAN GENETICS | 1979年 / 48卷 / 01期

关键词：

D O I：

10.1007/BF00273270

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

After testing a population sample of 185 hospitalized Italian children for the plasma α-L-fucosidase deficiency and establishing an approximate threshold value between heterozygotes and wild-type homozygotes, we analyzed by two statistical methods the distribution of the two genotypes. The results obtained by probit analysis agree with threshold and average values expected on the basis of the Hardy-Weinberg equilibrium. In addition, the level of α-fucosidase in leukocytes of 12 individuals with deficiency of α-fucosidase in plasma was found to be significantly lower than that of 61 controls (P<0.005). These results indicate that the mutation(s) causing a deficiency of α-fucosidase in plasma is (are) also expressed in leukocytes. © 1979 Springer-Verlag.

引用

页码：23 / 30

页数：8

共 13 条

[1] COMPARISON OF ALPHA-L-FUCOSIDASE ACTIVITIES OF HUMAN LIVER AND SERUM [J].