@article{oai:niigata-u.repo.nii.ac.jp:00023986,
 author = {高木, 康敬},
 issue = {8},
 journal = {新潟医学会雑誌, 新潟医学会雑誌},
 month = {Aug},
 note = {Hereditary diseases are now considered in the following main categories: 1) chromosomal aberrations 2) multifactorial disorders 3) single-gene disorders. Since the recombinant DNA techniques were established in nineteen seventies, single-gene disorders were studied precisely at the level of genomic DNA. It has been established for instance that many mutations, more than 35 types, found in the regions essential for the various steps of gene expression cause the beta-thalassemia. However it was also known that these mutations can not explain all the cases of this disease, and more efforts are requested to explore other types of regulatory mechanism of gene expression in the wide area covering introns and flanking regions. The methods of DNA diagnosis of single-gene disorders were also discussed.},
 pages = {499--501},
 title = {4) 先天性疾患の本態と診断に関する研究の進歩(シンポジウム 遺伝子工学と医学, 第422回新潟医学会)},
 volume = {101},
 year = {1987}
}