丹麦囊性纤维化染色体上ΔF508突变的频率。
Frequency of the delta F508 mutation on cystic fibrosis chromosomes in Denmark.
作者信息
Schwartz M, Johansen H K, Koch C, Brandt N J
机构信息
Section of Clinical Genetics, University Hospital, Rigshopitalet, Copenhagen, Denmark.
出版信息
Hum Genet. 1990 Sep;85(4):427-8. doi: 10.1007/BF02428297.
We have investigated the frequency of the delta F508 mutation on cystic fibrosis (CF) chromosomes in Denmark. Of 304 chromosome tested, 86.8% have the delta F508 mutation. The majority of the chromosomes with this mutation are found on chromosomes with the XV2c/KM19 haplotype B (97.3%), whereas 15/16 chromosomes with haplotype C have another mutation, confirming that only very few mutations will account for the majority of CF genes in the Danish population.
我们调查了丹麦囊性纤维化（CF）染色体上ΔF508突变的频率。在检测的304条染色体中，86.8%携带ΔF508突变。大多数携带此突变的染色体位于具有XV2c/KM19单倍型B的染色体上（97.3%），而16条具有单倍型C的染色体中有15条有另一种突变，这证实了在丹麦人群中只有极少数突变占CF基因的大多数。
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