在一名非裔美国人（CF444delA）、一名意大利人（CF2522insC）和一名苏联人（CF3821delT）中检测到囊性纤维化基因的三种罕见移码突变。
Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT).
作者信息
White M B, Krueger L J, Holsclaw D S, Gerrard B C, Stewart C, Quittell L, Dolganov G, Baranov V, Ivaschenko T, Kapronov N I
机构信息
Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center (FCRDC), Frederick, Maryland.
出版信息
Genomics. 1991 May;10(1):266-9. doi: 10.1016/0888-7543(91)90510-l.
We have identified three new frameshift mutations in the CFTR gene in patients with cystic fibrosis (CF). The first one involves the deletion of an adenine nucleotide in exon 4 in an African-American patient (CF444delA), the second involves the insertion of a cytosine nucleotide in exon 13 in an Italian patient (CF2522insC), and the third results from the deletion of a thymidine nucleotide in exon 19 in a Soviet patient (CF3821delT). Each mutation is predicted to result in premature termination of the CFTR protein.
我们在囊性纤维化（CF）患者的CFTR基因中鉴定出了三种新的移码突变。第一种突变是一名非裔美国患者的第4外显子中缺失了一个腺嘌呤核苷酸（CF444delA），第二种突变是一名意大利患者的第13外显子中插入了一个胞嘧啶核苷酸（CF2522insC），第三种突变是一名苏联患者的第19外显子中缺失了一个胸腺嘧啶核苷酸（CF3821delT）。预计每种突变都会导致CFTR蛋白提前终止。
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