DELTA-F508 DELETION IN CYSTIC-FIBROSIS IN ITALIAN FAMILIES

被引：1
|
作者：
RESTAGNO, G
GARNERONE, S
GENNARO, C
VARETTO, O
ANSALDI, N
CASTELLO, D
SANTINI, B
CARBONARA, AO
机构：
[1] UNIV TURIN,DIPARTIMENTO GENET BIOL & CHIM MED,SEZ GENET,I-10126 TURIN,ITALY
[2] CNR,CTR IMMUNOGENET & ISTOCOMPATABIL,TURIN,ITALY
[3] UNIV TURIN,IST DISCIPLIN PEDIAT,CATTEDRA PEDIAT,I-10100 TURIN,ITALY
[4] OSPED INFANTILE REGINA MARGHERITA,SERV PNEUMOL,I-10100 TURIN,ITALY
来源：
HUMAN GENETICS | 1990年 / 85卷 / 04期
关键词：
D O I：
10.1007/BF02428293
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
In 20 Italian families with cystic fibrosis (CF), restriction fragment length polymorphisms were detected by five linked markers; a strong linkage disequilibrium is observed between the haplotype B (alleles 2/1 with respect to KM19/XV2c) and CF. The frequency of the ΔF508 deletion in CF chromosomes of this sample is 50%. A significant correlation is found between the absence of the ΔF508 mutation and pancreatic sufficiency. © 1990 Springer-Verlag.
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页码：422 / 423
页数：2
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