生理性大视杯的遗传规律  

Genetic propensity of physiologic large cups

作　　者：张宇燕[1] 孙兴怀[2] 左伋[3] 嵇训传[2] 叶纹[1] 

机构地区：[1]复旦大学附属华山医院眼科,上海200040 [2]复旦大学附属眼耳鼻喉科医院眼科,上海200031 [3]复旦大学上海医学院细胞与遗传医学系,上海200032

出　　处：《复旦学报（医学版）》2006年第1期60-62,共3页Fudan University Journal of Medical Sciences

摘　　要：目的探讨生理性大视杯的遗传规律。方法由同一人用眼底镜检测生理性大视杯家族其他成员的眼底C/D值,分析生理性大视杯的发生率,并用系谱分析法推断生理性大视杯的遗传模式。结果共调查165人,其中生理性大视杯占69.7%。对56个生理性大视杯者家系调查,发现其一级亲中生理性大视杯占53.9%;二级亲中生理性大视杯占57.1%。对有完整双亲的46个生理性大视杯者的父母进行调查,结果发现46个家系中,父母均为生理性大视杯有6个家系,父母均非生理性大视杯有6个家系,仅父亲是生理性大视杯有15个家系,仅母亲是生理性大视杯有19个家系。结论生理性大视杯的发生与遗传有关,可能为常染色体显性遗传。Purpose To investigate the genetic propensity of physiologic large cups. Methods C/ D values were examined among family members of indices with physiologic large cups. To ensure reliability, examinations on subjects were conducted by the same investigator using ophthalmoscope. Prevalence of physiologic large cup was assessed. Pedigree analysis was employed to investigate the hereditary mode of physiologic large cup. Results ① Of the total 165 subjects including indices and family members, 115 （69.7%） had physiologic large cup. ②Family structure investigation was conducted among 56 physiologic large cup indices. And 53.9% of the first degree relatives and 57.1 % of the second degree relatives had physiologic large cup. ③ Descriptive analyses were performed on parents of 46 physiologic large cup indices. Of 46 families, 6 （13%） families had both parents having physiologic large cup, 6 （13%） families had neither parent having physiologic large cup, 15 （32.6%） families had the father but not the mother having physiologic large cup, and 19 （41.3%）families had the mother but not the father having physiologic large cup. Of the total 137 subjects including indices and their first-degree and second-degree parents, 92 （67.2%） had physiologic large cup. Of 46 physiologic large cup parents, 45.7% were the father of the index and 54.3% were the mother of the index having the physiologic large cup. Conclusions Genetic factors possibly contributed to physiologic large cup susceptibility. The mode of inheritance is likely to be autosomal dominant.

关 键 词：生理性大视杯 视乳头 遗传规律 

分 类 号：R339.146[医药卫生—人体生理学]