先天性家族性指关节融合症系谱分析  

THE PEDIGREE ANALYSIS OF CONGENITAL FAMILIAL SYPHALANGISM

作　　者：袁志刚[1] 江峰[2] 叶英[1] 

机构地区：[1]广西医科大学生物学教研室,南宁530021 [2]广西医科大学第一附属医院骨科

出　　处：《广西医学院学报》2000年第6期1076-1077,共2页

摘　　要：目的：探讨先天性家族性指关节融合症的遗传方式，了解其发病规律。方法：实地调察与临床诊断相结合，并进行系谱分析。结果：家系中46人有23位受累，发病率为50%。男女发病机会一致。连续6代都有患者。患者出现的症状轻重不一。结论：先天性家族性指关节融合症系谱为常染色体显性遗传。该致病基因有表现度不一致的现象。Obiective:To probe into the manner of inheritance an d the law of Congenital Familial SyphalangismMethods:The ped iree was analys ed after onthespot inverstigations and diagnoses had been madeRes ults:Th ere were 23 patients in the 46member familyThe incidence of the disease was 50% The probabilities of men suffering from the congenital familial sypha langism were as same as women'sBut there were different degrees of the symptom among these patientsConclusion:The character of the congenital fa milial syphalangism was inherited in the manner of autosomal dominant inheritanc e The expressivities of the gene in individual was not the same as the others' But the gene of the congenital familial syphalangism was differently express ed

关 键 词：家族性 先天性 指关节 患者 发病机会 常染色体显性遗传 致病基因 系谱分析 症状 遗传方式 

分 类 号：R749.16[医药卫生—神经病学与精神病学] R686.5[医药卫生—临床医学]