Rommens J M, Zengerling S, Burns J, Melmer G, Kerem B S, Plavsic N, Zsiga M, Kennedy D, Markiewicz D, Rozmahel R
Department of Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
Am J Hum Genet. 1988 Nov;43(5):645-63.
To facilitate mapping of the cystic fibrosis locus (CF) and to isolate the corresponding gene, we have screened a flow-sorted chromosome 7-specific library for additional DNA markers in the 7q31-q32 region. Unique ("single-copy") DNA segments were selected from the library and used in hybridization analysis with a panel of somatic cell hybrids containing various portions of human chromosome 7 and patient cell lines with deletion of this chromosome. A total of 258 chromosome 7-specific single-copy DNA segments were identified, and most of them localized to subregions. Fifty three of these corresponded to DNA sequences in the 7q31-q32 region. Family and physical mapping studies showed that two of the DNA markers, D7S122 and D7S340, are in close linkage with CF. The data also showed that D7S122 and D7S340 map between MET and D7S8, the two genetic markers known to be on opposite sides of CF. The study thus reaffirms the general strategy in approaching a disease locus on the basis of chromosome location.
为便于绘制囊性纤维化基因座（CF）图谱并分离相应基因，我们筛选了一个经流式细胞分选的7号染色体特异性文库，以寻找7q31 - q32区域的其他DNA标记。从该文库中选取独特的（“单拷贝”）DNA片段，并用于与一组包含人类7号染色体不同部分的体细胞杂种以及缺失该染色体的患者细胞系进行杂交分析。共鉴定出258个7号染色体特异性单拷贝DNA片段，其中大多数定位于亚区域。其中53个对应于7q31 - q32区域的DNA序列。家系和物理图谱研究表明，两个DNA标记D7S122和D7S340与CF紧密连锁。数据还显示，D7S122和D7S340定位于MET和D7S8之间，已知这两个遗传标记位于CF的两侧。因此，该研究再次证实了基于染色体定位来研究疾病基因座的总体策略。
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