@article{oai:niigata-u.repo.nii.ac.jp:00019960,
 author = {田部, 浩行},
 issue = {8},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Aug},
 note = {Human Xq28 has been known for its unusually high gene density, and many neurogenic diseases including adrenoleukodystrophy, Emery-Dreifuss muscular dystrophy and hydrocephalus have been mapped to Xq28 by linkage analyses. Molecular cloning of cDNAs encoded by Xq28, which are expressed in the relevant tissues, will fascilitate the identification of the disease genes. We devised a methos to identify cDNAs, which are encoded by a particular region of human chromosome and expressed in tissues. Briefly, 1784 cosmid clones carrying human DNA segments from Xq24-qter were devided into subgroups with each group containing 96 cosmid clones. The pooled DNAs were digested by BamHI, erectrophresed through 1.0% agarose gels and trasnsferred to nitrocellulose membranes. To reduce the complexity of cDNA probes, cDNA sublibraries were prepared from a human brain cDNA library, with each sublibrary containing approximately 500 cDNA clones. Hybridization of ^<32>P-labelled probes made from the cDNA sublibrary to the nitrocellulose filters containing cosmid DNAs enable the identification of genomic DNA segments carring expressed sequences. The genomic DNA segment carring sequences were then used to identify corresponding cDNA clones. By screening 2000 cDNA clones, a cDNA clone p877 was isolated. Regional mapping using a somatic cell hybrid panel showed that the gene coding for p877 is located at Xq28 and Northern blot analysis demonstrated that the mRNA is predominantly expressed in the central nervus system and muscle. The results indicate that the method is useful for identifying cDNA clones which are expressed in the brain and encoded by Xq24-qter. This clone was further mapped to a 900kbp region containing color pigmet gene. The result raised the possibility that p877 is candidate gene for ALD. I performed Southern blot analysis of 20 patients with ALD and Northern blot analysis of 13 patients with ALD. I did not find any differences between normal controls and ALD patients. Further analysis including single strand conformation polymorphism（SSCP）and RNase cleavage will be required to identify point mutations in p877 gene.},
 pages = {753--766},
 title = {染色体特異的, 組織特異的 cDNAの単離法の開発 : Adrenoleukodystrophy（ALD）の病因遺伝子に関する研究への応用},
 volume = {107},
 year = {1993}
}