Human CFTR gene sequences in regions flanking exon 10: a simple repeat sequence polymorphism in intron 9.
Human CFTR gene sequences in regions flanking exon 10: a simple repeat sequence polymorphism in intron 9.
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外显子 10 侧翼区域的人类 CFTR 基因序列：内含子 9 中的简单重复序列多态性。
DOI：
10.1006/bbrc.1996.0195
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发表时间：
1996
期刊：
影响因子：
--
通讯作者：
Gruenert,DC
中科院分区：
文献类型：
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作者：
Xu,Z;Gruenert,DC
对人囊性纤维化跨膜传导调节因子基因的一个2,908 bp的基因组DNA片段进行了测序，该片段包含外显子10和侧翼内含子区。一个30-bp的序列差异和三个缺失的核苷酸相比，以前公布的831-bp的序列被检测到。在30 bp的序列差异区域，只有一个引物的基础上，在这项研究中提出的新的序列信息，从聚合酶链反应扩增的细胞DNA和质粒DNA的CFTR的外显子10区域的产品。在内含子9区域还发现了一个4 bp（TAAA）的简单重复序列。该重复序列在不同的染色体上有9个（TAAA）9或11个（TAAA）11拷贝。11个重复序列仅与携带ΔF508突变的染色体相关。在非ΔF508染色体上检测到9个和11个重复。
A 2,908-bp segment of genomic DNA containing exon 10 and flanking intron regions of the human cystic fibrosis transmembrane conductance regulator gene was sequenced. A 30-bp sequence discrepancy and three missing nucleotides were detected when compared to a previously published 831-bp sequence. In the 30-bp region of sequence discrepancy, only a primer based on the new sequence information presented in this study gave products from polymerase chain reaction amplification of cellular DNA and a plasmid DNA encompassing the exon 10 region of CFTR. A 4-bp (TAAA) simple repeat sequence was also identified in intron 9 region. This repeat is dimorphic with nine (TAAA)9or eleven (TAAA)11copies on different chromosomes. Eleven repeats were exclusively associated with chromosomes carrying the ΔF508 mutation. Both 9 and 11 repeats were detected in non-ΔF508 chromosomes.