囊性纤维化致病突变与CFTR基因第6a内含子中四核苷酸重复序列不同等位基因的连锁关系鉴定。
Identification of the linkage of mutations causing cystic fibrosis to different alleles of a tetranucleotide repeat in intron 6a of the CFTR gene.
作者信息
Voronina O V, Gaitskhoki V S, Bogacheva E V, Uembitskaya T E, Kuprina E A, Kapranov N I, Schwartz E I
机构信息
Institute for Nuclear Physics, Russian Academy of Sciences, St. Petersburg.
出版信息
Biochem Med Metab Biol. 1994 Apr;51(2):185-7. doi: 10.1006/bmmb.1994.1024.
The linkage of the intragenic polymorphic (GATT)n repeat to a number of cystic fibrosis transmembrane conductance regulator gene mutations (delta F-508, G542X, G551D, R553X, R1162X, W1282X, N1303K, R334W, and R347P) was studied. The linkage of delta F-508, G542X, and N1303K to a six-copy allele and of R334W to a seven-copy allele of the repeat was found.
研究了基因内多态性（GATT）n重复序列与多个囊性纤维化跨膜传导调节因子基因突变（ΔF-508、G542X、G551D、R553X、R1162X、W1282X、N1303K、R334W和R347P）的连锁关系。发现ΔF-508、G542X和N1303K与该重复序列的一个六拷贝等位基因连锁，而R334W与该重复序列的一个七拷贝等位基因连锁。
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