Mutations among Italian mucopolysaccharidosis type I patients

被引：35

作者：

Gatti, R

DiNatale, P

Villani, GRD

Filocamo, M

Muller, V

Guo, XH

Nelson, PV

Scott, HS

Hopwood, JJ

机构：

[1] UNIV NAPLES FEDERICO II,DIPARTIMENTO BIOCHIM & BIOTECNOL MED,I-80131 NAPLES,ITALY

[2] G GASLINI INST CHILDREN,LAB DIAGNOSI PRE & POSTNATALE MALATTIE METAB,GENOA,ITALY

[3] WOMENS CHILDRENS HOSP,DEPT CHEM PATHOL,LYSOSOMAL DIS RES UNIT,ADELAIDE,SA,AUSTRALIA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1997年 / 20卷 / 06期

关键词：

D O I：

10.1023/A:1005323918923

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A group of 27 Italian patients was screened for alpha-L-iduronidase mucopolysaccharidosis type I mutations. Mutations were found in 18 patients. with 28 alleles identified. The two most common mutations in northern Europeans (W402X and Q70X) accounted for 11% and 13% of the alleles, respectively. The R89Q mutation, uncommon in Europeans, was found only in one patient, accounting for 1 of 54 alleles (1.9%). The other mutations, P533R, A327P and G51D, accounted for 11%, 5.6% and 9.3% of the total alleles, respectively. Interestingly, the high frequency of the P533R mutation seems to be confined to Sicily and is higher than the 3% reported in a British/Australian study.

引用

页码：803 / 806

页数：4

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