摘要
本文对73个家系,82例患者作了家系分析和细胞遗传学研究。73个家系系中,有家族史者6个,患者13例,占15.85%,RB的发病年龄主要在0-6岁,高发年龄0-3岁,占84.15%,双眼患者在0-3岁发病,高发年龄为1岁以前,占56.25%;单眼患者高发年龄0-4岁占95.45%。本文32例患者中2例有13q14-、占6.25%。在高分辨染色体分析时,家族及双眼散发性RB畸变率为12.67%,单眼散发的为5.31%,正常对照为2.78%,经统计学处理,差异显著,表明家族及双眼散发性RB的染色体不稳定性增高。可作为检测肿瘤易感人群的指标之一。
The pedigree analysis combined with a cytogenetic study had been introduced to our work on retinoblastoma(RB)in 73 families, in which 82 affected cases were detected.In the tested cases, I3 presented a family histories,69 were sporadic cases. Based on our data, the clinical diagnostic age in RB were range from 0~6, most were detected beofre 3 years old.The onset age in bilateral was much earlier than in unilateral. Only a few cases could detect a deletion at 13q14 band.The high resolution banding technique(HRB)had been used to enhance our abiliting in finding microdeletion in 32 RB patients,two intertial deletions were found, of which one was bilateral and one unilateral.The deletion frequency in our HRB ltudy was 6.25%.A singnificantly elevated frequencies of the chromosomal aberrations were absered in familial and sporadic bilateral RB patients.This suggested an increased chromosomal instability in these group.This result might be used an sensitive sign in testing RB risk population.
出处
《中国优生与遗传杂志》
1994年第5期90-92,136+130,共5页
Chinese Journal of Birth Health & Heredity