Distinct haplotype in non-Ashkenazi Gaucher patients with N370S mutation

被引：8

作者：

Amaral, O

Marcao, A

Pinto, E

Zimran, A

Miranda, MCS

机构：

[1] INST GENET MED JACINTO MAGALHAES,UNIDADE ENZIMOL,P-4050 OPORTO,PORTUGAL

[2] INST BIOL MOL CELULAR,UNIDADE NEUROBIOL,P-4150 OPORTO,PORTUGAL

[3] SHAARE ZEDEK MED CTR,DEPT MED,GAUCHER CLIN,JERUSALEM,ISRAEL

来源：

BLOOD CELLS MOLECULES AND DISEASES | 1997年 / 23卷 / 22期

关键词：

haplotypes; glucocerebrosidase; Gaucher disease; Portugal;

D O I：

10.1006/bcmd.1997.0159

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A new polymorphism, in intron 7 of glucocerebrosidase gene, has been identified in Gaucher Disease patients. It seems to appear only in Pv1.1(-) alleles bearing the N370S mutation. This new sub-haplotype was only identified in Portuguese patients, of origins spanning all of the Portuguese continental territory. This finding indicates that, in the Portuguese, mutation N370S has existed in the context of two slightly different haplotypes and thus must be relatively ancient.

引用

页码：415 / 416

页数：2