212个意大利囊性纤维化（CF）家庭中的多态性DNA单倍型和ΔF508缺失
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.
作者信息
Novelli G, Gasparini P, Savoia A, Pignatti P F, Sangiuolo F, Dallapiccola B
机构信息
Dipartimento di Sanità Pubblica e Biologia Cellulare, II Università degli Studi di Roma, Italy.
出版信息
Hum Genet. 1990 Sep;85(4):420-1. doi: 10.1007/BF02428291.
Haplotype data based on the DNA markers closely linked to the cystic fibrosis (CF) gene have been used to correlate the presence of the 3 bp specific deletion (delta F508) in 424 CF chromosomes from 212 Italian CF families. The distribution and the frequency of the F508 deletion on CF chromosomes in our sample suggests the presence of at least a second mutation in the same ancestral haplotype.
基于与囊性纤维化（CF）基因紧密连锁的DNA标记的单倍型数据，已被用于关联来自212个意大利CF家庭的424条CF染色体中3 bp特异性缺失（ΔF508）的存在情况。我们样本中CF染色体上F508缺失的分布和频率表明，同一祖先单倍型中至少存在第二种突变。
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