CONFIRMATION OF THE CHROMOSOMAL LOCALIZATION OF HUMAN LAMP GENES AND THEIR EXCLUSION AS CANDIDATE GENES FOR SALLA DISEASE

被引：3

作者：

SCHLEUTKER, J

HAATAJA, L

RENLUND, M

PUHAKKA, L

VIITALA, J

PELTONEN, L

AULA, P

机构：

[1] UNIV HELSINKI,DEPT OBSTET,SF-00100 HELSINKI 10,FINLAND

[2] UNIV HELSINKI,DEPT BIOCHEM,SF-00100 HELSINKI 10,FINLAND

[3] NATL PUBL HLTH INST,MOLEC GENET LAB,SF-00280 HELSINKI 28,FINLAND

来源：

HUMAN GENETICS | 1991年 / 88卷 / 01期

关键词：

D O I：

10.1007/BF00204936

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Salla disease is an inherited lysosomal storage disorder caused by accumulation of free sialic acid in the lysosomes. Lamp genes, lamp A and lamp B (lysosome associated membrane proteins), are the first known genes encoding for human lysosomal membrane proteins. Absence of linkage in a large group of families shows that lamp genes are not involved in Salla disease. The lamp genes were localized, using Southern hybridization in hamster - human hybrid cell panels, to chromosomes t3 (lamp A) and X (lamp B).

引用

页码：95 / 97

页数：3

共 12 条

[1]

AULA P, 1986, J MENT DEFIC RES, V30, P365

[2] SALLA DISEASE - NEW LYSOSOMAL STORAGE DISORDER [J].