Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.
Polymorphic DNA haplotypes and delta F508 deletion in 212 Italian CF families.
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212 个意大利 CF 家族的多态性 DNA 单倍型和 delta F508 缺失。
作者：
G. Novelli;P. Gasparini;A. Savoia;P. Pignatti;F. Sangiuolo;B. Dallapiccola
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家族的424条CF染色体中3 bp特异性缺失（Δ F508）的存在。在我们的样本中CF染色体上F508缺失的分布和频率表明在相同的祖先单倍型中存在至少第二个突变。
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.