敖德萨确诊患者囊性纤维化单倍型的初步结果。
Preliminary results on cystic fibrosis haplotypes from patients diagnosed in Odessa.
作者信息
De Benedetti L, Ronchetto P, Devoto M, Romeo G, Krainiaia G V, Reznik B Y
机构信息
Laboratorio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
出版信息
Acta Univ Carol Med (Praha). 1990;36(1-4):112-4.
Two RFLP's closely linked to the CF gene (KM.19/PstI and XV-2c/TaqI) have been analysed in a sample of CF families in which one or more affected children had been diagnosed by the CF Centre of Odessa. The most frequent haplotype in CF chromosomes (2-1) is the same observed with higher frequency in other populations. If confirmed on a larger sample of CF patients from the USSR, this result might be indicative of heterogeneity of mutations present in the Soviet population.
在一个来自敖德萨囊性纤维化中心已诊断出一个或多个患病儿童的囊性纤维化（CF）家系样本中，分析了与CF基因紧密连锁的两个限制性片段长度多态性（RFLP，即KM.19/PstI和XV-2c/TaqI）。CF染色体上最常见的单倍型（2-1）与在其他人群中观察到的较高频率相同。如果在来自苏联的更大的CF患者样本中得到证实，这一结果可能表明苏联人群中存在的突变具有异质性。
Zotero 插件