Ⅷ代遗传病汗孔角化症家族的353人家系调查与遗传方式研究  

353 CASES EIGHT GENERATIONS WITH HEREDITARY DISEASE OF ACTINIC POROKERATOSISFAMILY SURVEY AND RESEARCH OF HEREDITARY PATTERN

作　　者：陈胜湘[1] 伍汉文[2] 徐美录[3] 李翠奇[3] 陈服文[3] 

机构地区：[1]中南大学人类生殖与干细胞工程研究所,410078 [2]中南大学湘雅二医院内分泌科,410011 [3]中南大学湘雅医院皮肤科,410008

出　　处：《中国现代医学杂志》2003年第15期26-29,共4页China Journal of Modern Medicine

摘　　要：目的 :探讨“湖南家系”汗孔角化症遗传病进行家系调查研究 ,探讨该遗传病的主要临床特征与遗传方式。方法 :对“湖南家系”进行拉网式调查 ,并对汗孔角化症患者及其相关亲属采外周血 2 - 5ml(自愿者 ) ,用于基因定位。详细记录每代患者的主要临床特征 ,并根据家系图表达的致病基因的传递规律分析该家系的遗传方式。结果 :“湖南家系”共调查了Ⅷ代 35 3人次 ,汗孔角化症患者 5 3人次 ,男性患者 36人次 ,女性患者 17人次 ;Ⅷ代家族成员中代代有患者 ,没有男女性别的明显差异 ;主要临床特征 :皮损部位在面部及四肢为主 ,褐色斑疹 ,周边高 ,中央低 ;该病基因定位在 12 q2 3.2～ 2 4 .1。结论 :“湖南家系”汗孔角化症遗传方式为常染色体显性遗传病。致病基因遵循孟德尔遗传学规律 ,一代一代往下传递 ;“湖南家系”致病基因定位在 12q2 3.2～12 q2 4 .1。Objective:Survey for the actinic porokeratosis of 'Hunan Family', investigate the chlef clinical characteristic and hereditary pattern of that genetic disease.Methods:Proceeded a fleece-fulling fashioned survey of 'Hunan family', collected 2～5ml (voluntarily) of peripheral blood from each actinic porokeratosis patients and their relevant relatives for gene localization, and recorded the chief clinical characteristic of patients in every generations. Results:In 'Hunan family' we investigated 353 persons, discovered 53 aptients, in which 36 were male and 17 were female.In these 8 generations, patients were discovered in each generation; No remarkable difference in sex distribution.Chief clinical characteristic: skin lesions occur chiefly on the face and four extremities, being brown maculae, with higher periphery and lower central portion.The gene of that disease is located at 12q23～24.1.Conclusions:The hereditary pattern of the actinic porokeratosis of 'Hunan family'is autosomal dominant disease. The pathogenic gene of 'Hunan family' is located at 12q23.2～12q24.1.

关 键 词：汗孔角化症 遗传病家系调查 遗传方式 

分 类 号：R596[医药卫生—内科学]