绕核性白内障家系调查

目的 明确一先天性白内障大家系的临床特点、晶状体混浊的组织学改变和该家系的遗传模式。方法观察家系成员晶状体混浊等眼病情况。家系调查，绘制家系图谱。将患者术中取出的晶状体进行病理观察。应用“LiMantal-Gart法进行分离分析判断该家系的遗传模式。结果该家系白内障为典型的绕核性白内障，病理结果也提示病理性改变位于胚胎核周围。发病率64．56％，各代之间无明显差异。分离分析的结果说明为常染色体显性遗传。结论 证实了该家系为常染色体显性遗传的典型的绕核性白内障，遗传性状稳定，为以后的致病基因定位与克隆打下基础。

Investigation to a lamellar cataract family

Ob j ectiveTo investigate the clinical characteristics,histological feature and the heredity mode of a lamellar cataract family.MethodsNearly all the eyes of m embers form a lamellar cataract were examined,especially for the lens.The relati onship of this families was found out for drawing the pedigree analysis.During t he surgery,two cataract lens were extracted for histologic examination.Li-Manta l-Gart method was used for segregation analysis to confirm the pedigree pattern .ResultsAll of families have a typical lamellar cataract confirmed by clinic al and histological examinations.The incidence of cataract in this family was 64 56% without significant difference among every generation.Autosomal dominant h eredity in this family was determined by segregation analysis.ConclusionThis lamellar cataract family belongs to a autosome dominant heredity pattern with s teady heredity character.Our investigation lays a good foundation for further st udy of gene map and gene scan.