FREQUENCY OF DELETION-508 AMONG IRISH CYSTIC-FIBROSIS PATIENTS

被引：2

作者：

DEARCE, MA

MULHERIN, D

MCWILLIAM, P

LAWLER, M

FITZGERALD, MX

HUMPHRIES, P

机构：

[1] NATL UNIV IRELAND UNIV COLL DUBLIN,MED PROFESSORIAL UNIT,DUBLIN 4,IRELAND

[2] ST VINCENTS HOSP,DUBLIN 4,IRELAND

来源：

HUMAN GENETICS | 1990年 / 85卷 / 04期

关键词：

D O I：

10.1007/BF02428278

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We estimate the incidence of cystic fibrosis in Ireland to be at least 1 case per 1838 live births. We have analysed DNA from 44 Irish CF patients for the presence of deletion 508, using the polymerase chain reaction. The deletion was found in 76% of their chromosomes, and approximately 58% of the patients are homozygous for this deletion. Our results are not significantly different from those found in Canadian or UK patient populations, in which frequencies are higher than those found in Southern European countries. © 1990 Springer-Verlag.

引用

页码：403 / 404

页数：2