FREQUENCY OF THE DELTA-F508 MUTATION IN A SAMPLE OF 175 ITALIAN CYSTIC-FIBROSIS PATIENTS

被引：8

作者：

CREMONESI, L

RUOCCO, L

SEIA, M

RUSSO, S

GIUNTA, A

RONCHETTO, P

FENU, L

ROMANO, L

DEVOTO, M

ROMEO, G

FERRARI, M

机构：

[1] IST CLIN PERFEZIONAMENTO,RIC CLIN LAB,I-20122 MILAN,ITALY

[2] UNIV MILAN,PEDIAT CLIN 2,I-20122 MILAN,ITALY

[3] UNIV GENOA,IST G GASLINI,GENET MOLEC LAB,I-16147 GENOA,ITALY

[4] UNIV GENOA,IST G GASLINI,PEDIAT CLIN 1,I-16147 GENOA,ITALY

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428276

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A sample of 175 Italian cystic fibrosis patients has been analysed for the presence of the ΔF508 mutation. The frequency of this mutation among 137 patients with pancreatic insufficiency is equal to 57%; in 23 patients with pancreatic sufficiency it is 26%. A high proportion of the unknown mutations is associated with the same rare haplotype found in association with ΔF508, suggesting that at least another mutation occurred on a chromosome characterized by the same haplotype. © 1990 Springer-Verlag.

引用

页码：400 / 401

页数：2