论文部分内容阅读
目的:探讨和分析先天性耳前瘘管遗传特性,推测和阐述引起先天性耳前瘘管的可能遗传机制。方法:从45000人中发现先证者后采用询问家族史和患耳侧别等,收集到44个家系的先天性耳前瘘管,到患者家中详细调查,绘出家系图,给部分家系成员照相,进行遗传分析。结果:44个家系中,患者176人(男84,女92),其中38个家系每代均出现病人,6个家系出现隔代发病现象,世代间发病耳的侧别2/3是一致的,1/3是不一致的。结论;先天性耳前瘘管的遗传方式,2/3病例是按常染色体显性遗传,但有不规则显性遗传;1/3病例用此解释不通,与孟德尔遗传定律有不同之处,需深入研究。
Objective: To investigate and analyze the genetic characteristics of congenital preauricular fistula, and to speculate and explain the possible genetic mechanism of congenital preauricular fistula. Methods: 45 cases of probands were found after the use of family history and ask the ear side of the collection of 44 families of congenital ear fistula, a detailed investigation of the patient’s home, draw the pedigree map, to some family members to take pictures , For genetic analysis. RESULTS: Among 44 pedigrees, there were 176 patients (male 84, female 92), of whom 38 appeared in each generation and each of the 6 pedigrees showed segregation incidence. The 2/3 of the ear was consistent between generations , 1/3 is inconsistent. Conclusion: Congenital anterior fistula genetic mode, 2/3 cases are based on autosomal dominant inheritance, but with irregular dominant inheritance; 1/3 cases with this explanation barrier, and Mendel’s genetic laws are different, Need to study in depth.