摘要
本文应用’H标记的7.3kb的rRNA基因探针进行染色体原位杂交技术,并结合多种细胞遗传学技术对一个额外小染色体的家族进行分析研究。在该家族调查的三代人中有8名成员带有相同的额外小染色体,携带者表型均正常。结果证实该额外小染色体是D组或G组染色体的短臂。并就其额外小染色体的起源,遗传效应及生育等问题进行了扼要的讨论。
An extra small chromosome was observed in a three-generation family. Eight members of this family were involved, but their phenotypes were normal. Molecular cytogenetic study was carried out, using cytogenetic methods and chromosome in situ hybridization with 3H-labelled rDNA probe. The results showed that this chromosome was from the short arm of chromosome of D/G group. The origin and genetic effects of this chromosome and fertility of the carriers were also discussed were also discussed briefly.
关键词
额外小染色体
分子细胞遗传
Extra small chromosome, Chromosome in situ hybridization
