Genetic variation within the ovine cystic fibrosis transmembrane conductance regulator gene1

Scott J Tebbutt, Michael B Lakeman, Jane C Wilson-Wheeler, Diana F Hill
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引用次数: 6

Abstract

We report here the results of a preliminary screening programme to identify natural mutations in the ovine cystic fibrosis transmembrane conductance regulator (CFTR) gene. Nine regions of the ovine CFTR gene were screened, corresponding to human CFTR gene exons 4, 6b, 7, 9, 10, 11, 12, 17b and 20. DNA samples from up to 2000 individual sheep were examined by single-stranded conformation polymorphism (SSCP) of each exon. In addition to the mutation (R297Q) reported previously, we have found several interesting variants, including intronic DNA variants and exonic polymorphisms.

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绵羊囊性纤维化跨膜电导调节基因1的遗传变异
我们在此报道了一项初步筛选计划的结果,该计划旨在鉴定绵羊囊性纤维化跨膜电导调节因子(CFTR)基因的自然突变。筛选了绵羊CFTR基因的9个区域,对应于人CFTR基因外显子4、6b、7、9、10、11、12、17b和20。通过每个外显子的单链构象多态性(SSCP)检测了2000只绵羊的DNA样本。除了先前报道的突变(R297Q)外,我们还发现了几个有趣的变体,包括内含子DNA变体和外显子多态性。
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VOLUME CONTENTS Comprehensive analysis of a large genomic sequence at the putative B-cell chronic lymphocytic leukaemia (B-CLL) tumour suppresser gene locus Mutational analysis within the 3′ region of the PKD1 gene in Japanese families Allelic polymorphisms in the transcriptional regulatory region of human SEL1L CUMULATIVE AUTHOR INDEX FOR MUTNOM 2000
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