Royer-Pokora B, Kunkel L M, Monaco A P, Goff S C, Newburger P E, Baehner R L, Cole F S, Curnutte J T, Orkin S H
Nature. 1986;322(6074):32-8. doi: 10.1038/322032a0.
The gene that is abnormal in the X-linked form of the phagocytic disorder chronic granulomatous disease has been cloned without reference to a specific protein by relying on its chromosomal map position. The transcript of the gene is expressed in the phagocytic lineage of haematopoietic cells and is absent or structurally abnormal in four patients with the disorder. The nucleotide sequence of complementary DNA clones predicts a polypeptide of at least 468 amino acids with no homology to proteins described previously.
在吞噬细胞疾病慢性肉芽肿病的X连锁形式中出现异常的基因，是通过依据其染色体图谱位置，在未参考特定蛋白质的情况下被克隆出来的。该基因的转录本在造血细胞的吞噬细胞谱系中表达，并且在四名患有该疾病的患者中不存在或结构异常。互补DNA克隆的核苷酸序列预测出一种至少含有468个氨基酸的多肽，该多肽与先前描述的蛋白质没有同源性。
