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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: To investigate the familial investigation of genetic susceptibility to keratoconus keratosis in “Hunan pedigree” and discuss the main clinical features and genetic modes of this genetic disease. Methods: A total of 2 - 5ml peripheral blood samples (volunteers) were collected from Hunan families for sweat pore keratosis and their related relatives for gene mapping. The main clinical features of each generation were recorded in detail and the genetic pattern of the pedigree was analyzed based on the transmission of pathogenic genes expressed in pedigrees. Results: Hunan families surveyed 353 people in Ⅷ generation, 53 patients in perspiration pore keratosis, 36 males and 17 females. There were no obvious gender differences between the Ⅷ-generation family members on behalf of the patients Differences; The main clinical features: skin lesions in the face and limbs dominated, brown rash, peripheral high, central low; the gene is located in the 12 q2 3.2 ~ 2 4 .1. Conclusion: The familial mode of persimmon keratosis in Hunan family is autosomal dominant disease. Pathogenic genes follow Mendelian rule of genetics, passed down from generation to generation; “Hunan family” pathogenic genes located in 12q2 3.2 ~ 12 q2 4 .1.