ヒト染色体研究の法医学および臨床への応用

概要

論文の詳細を見る
With advances in numerous banding techniques employing quinacrine mustard and Giemsa staining procedures, it has become possible not only to identify small or complicated chromosome abnormalities but also to detect many chromosome variants in man. In order to investigate the forensic and clinical application of human chromosomes, chromosome studies have been carried out in patients with various congenital abnormalities and in volunteers who visited the Department of Legal Medicine, Sapporo Medical College during the 10 months since July 1980. The results obtained are as follows: (1) Chromosome studies were carried out in 19 patients with congenital abnormalities or heritable diseases. The QFQ technique was adopted to identify abnormal chromosomes. Major chromo- some abnormalities were found in 7 cases. These included 6 cases of 47, XX or XY, +21 and one case of 47, XX, +18. (2) Reexaminations of 6 cases, in which the abnormal chromosome had not been distinctly identified by previous examinations, were carried out employing a combination of numerous banding techniques, and all of the cases were identified. (3) By an analysis of Q- and C- banding patterns in a family for 3 generations the transmission of the observed variants to the descendants was verified. (4) By the exact analysis of variant chromosomes, the accuracy of zygosity and paternity tests should be progressively improved.
札幌医科大学の論文
1981-06-01