四个汉族瘢痕疙瘩家系临床特征及遗传学分析  

Clinical characteristics and genetic survey on four families of keloid

作　　者：滕国栋[1] 陈敏亮[2] 刘畅[2] 颜彤彤 梁黎明[2] 

机构地区：[1]解放军第401医院手外科,青岛266071 [2]解放军总医院第一附属医院烧伤整形外科

出　　处：《中华医学美学美容杂志》2015年第2期91-94,共4页Chinese Journal of Medical Aesthetics and Cosmetology

基　　金：国家自然科学基金资助项目（81272103）

摘　　要：目的 分析4个汉族瘢痕疙瘩家系的临床及遗传学特点.方法 收集汉族瘢痕疙瘩家系信息及临床资料,127例成员接受调查,发病22例;绘制族谱图,运用遗传学方法分析其遗传模式,并分析家系内该病的临床特点.结果 4个汉族瘢痕疙瘩家系均为4代以上家系;3代发病家系3例与4代发病家系1例;家系内发病率23.7％（23/93）,男性发病率20.8％（11/53）,女性发病率27.5％（11/40）,前胸部发病率40.9％;家系遗传模式符合常染色体显性多基因遗传性疾病,伴外显不完全,总体不外显率12％（3/25）.结论 4个汉族瘢痕疙瘩家系的发病率无性别差异,但有发病部位差异,家系调查有助于揭示瘢痕疙瘩的遗传学特点.Objective To study the clinical and genetic characteristics of keloid through investigating on four Han Chinese pedigrees.Methods The pedigree information and clinical data from Han Chinese keloid pedigrees were collected,which consisted of 22 patients in 127 family members,and then the charts of these pedigrees were constructed according to the data.Using the genetic model and pedigree analyses we summarized the clinical features of the disease in the families.Results Four Han Chinese keloid pedigrees were discovered.The three pedigree spans included 3 generations and one was 4 generations.Incidence of KD in the consanguinity family member was 23.7% （23/93）,and 20.8% （11/53） in male KD,and 27.5% （11/40） in female.Incidence of anterior chest KD was 40.9 %.The inheritance pattern observed in these pedigrees was consistent with an autosomal dominant inheritance multi-gene hereditary disease with incomplete penetrance,and its nonpenetrance of KD gene carriers was 12% （3/25）.Conclusions The pattern of inheritance observed in these four Han Chinese keloid pedigrees is similar to previous reports and no gender differences are found in the incidence of disease,but differences in pathogenic site.Pedigree investigation helps to reveal the genetic characteristics of keloid.

关 键 词：瘢痕疙瘩 族谱 遗传学 中国汉族 

分 类 号：R622[医药卫生—整形外科]