苏联囊性纤维化患者中ΔF508突变频率的初步结果。
Preliminary results on the frequency of the delta F508 mutation in cystic fibrosis patients from the USSR.
作者信息
Ronchetto P, Devoto M, Puliti A, Romeo G, Sokolov B, Kalinin V N, Vorsanova S G, Krainiaia G V, Reznik B Y
机构信息
Laboratoio di Genetica Molecolare, Istituto G. Gaslini, Genoa, Italy.
出版信息
Hum Genet. 1990 Sep;85(4):423-4. doi: 10.1007/BF02428294.
PMID:2210759
Abstract
The frequency of the delta F508 mutation in a sample of 29 cystic fibrosis (CF) families from the USSR is equal to 44.8%, in agreement with previously reported haplotype data. If confirmed on a larger sample of CF patients from the USSR, this result might be indicative of the presence of a larger heterogeneity of CF mutations in the Soviet population than in other European populations.
摘要
来自苏联的29个囊性纤维化（CF）家庭样本中，ΔF508突变的频率为44.8%，这与先前报道的单倍型数据一致。如果在来自苏联的更大规模CF患者样本上得到证实，这一结果可能表明苏联人群中CF突变的异质性比其他欧洲人群更大。
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