Kabra M, Ghosh M, Kabra S K, Khanna A, Verma I C
Department of Paediatrics, All India Institute of Medical Sciences, New Delhi.
Indian J Med Res. 1996 Dec;104:355-8.
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.
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。
