Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4)

被引：15

作者：

Huie, ML

Menaker, M

Mcalpine, PJ

Hirschhorn, R

机构：

[1] NYU MED CTR,DEPT MED,NEW YORK,NY 10016

[2] UNIV MANITOBA,DEPT HUMAN GENET,WINNIPEG,MB R3E 0W3,CANADA

来源：

ANNALS OF HUMAN GENETICS | 1996年 / 60卷

关键词：

D O I：

10.1111/j.1469-1809.1996.tb00433.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We have identified the molecular basis of the GAA*4 allozyme as a G to A transition at nt2065 which predicts the substitution of glutamic acid by lysine at codon 689 (E689K). The conclusion that this change represents the molecular basis of the GAA*4 allozyme is based on 1) presence of the G2065A in homozygosity in a known GAA*4 homozygote, 2) transient expression studies showing normal enzyme activity expressed by cDNA containing the G2065A transition and 3) isoelectric focusing studies showing a more cathodal pattern for the expressed product as compared to the common GAA*1, analogous to the patterns seen in normal and known GAA*4 lymphoid cells.

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页码：365 / 368

页数：4

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