先天性家族性指关节融合症系谱分析

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.

THE PEDIGREE ANALYSIS OF CONGENITAL FAMILIAL SYPHALANGISM

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