人类体细胞染色体的异态性研究Ⅰ.1qh^+

HETEROMORPHISM OF SOMATIC CELL CHROMOSOMES IN MANKIND:1.CHROMOSOME 1qh^+

本文运用数种显带(G、C显带和高分辨显带)技术对具有1qh^+的4个家系作了研究。结果表明,1qh^+(1区2带)的大小约为16p的1.3～1.5倍;通过对例1家系的追溯,提示1qh^+染色体按孟德尔显性定律传递。至于1qh^+与临床表现(如两眼距宽、颈蹼等)之间的关系尚待进一步研究。

Using G-banding, C-banding and high resolution banding techniques, chromosome 1qh^+ was discovered in 4 families. The results obtained showed that a large chromosome in the karyotypes of the patients must be one of chromosome 1 and the additional segment at region 1q12 was 1.3—1.5 times the size of 16p. From the study in the members of the family 1, we concluded that 1qh^+ was transmitted in accordance with Mendelian dominant law. There were several clinical signs (including ocular hypertolorism and skin folds at the back of neck) related to 1qh^+ in 2 cases, while in the other 2 cases no abvious clinical abnormalities were observed other than a history of abortion or abnormal sperm. It appears that further studies are necessary in order to understand the relationship between 1qh^+ and the clinical manifestations.