视网膜母细胞瘤的遗传学研究

A genetic study of retinoblastoma

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.