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患有囊性纤维化的印度儿童中的ΔF508分子突变

Delta F 508 molecular mutation in Indian children with cystic fibrosis.

作者信息

Kabra M, Ghosh M, Kabra S K, Khanna A, Verma I C

机构信息

Department of Paediatrics, All India Institute of Medical Sciences, New Delhi.

出版信息

Indian J Med Res. 1996 Dec;104:355-8.

PMID:8996936
Abstract

A preliminary report of 13 Indian children with cystic fibrosis who were screened for the commonest mutation (delta F 508) is presented. Six (46%) patients were homozygous for delta F 508, while two patients were compound heterozygotes. Thus 14 (53.8%) of 26 mutant chromosomes had delta F 508 mutation. These findings confirm that cystic fibrosis occurs in India and all children with persistent respiratory problems and/or malabsorption should be screened for this disease.

摘要

本文呈现了对13名患有囊性纤维化的印度儿童进行最常见突变(ΔF508)筛查的初步报告。6名(46%)患者为ΔF508纯合子,而2名患者为复合杂合子。因此,在26条突变染色体中,有14条(53.8%)存在ΔF508突变。这些发现证实了囊性纤维化在印度存在,所有患有持续性呼吸道问题和/或吸收不良的儿童都应进行该疾病的筛查。

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