三个汉族瘢痕疙瘩家系的临床遗传学调查

Clinical genetics of three populations of Han familial keloids

背景:瘢痕疙瘩的遗传学发病机制及遗传模式尚不清楚,探索瘢痕疙瘩的临床遗传学特征是其致病基因定位和克隆等进一步研究的前提和基础。目的:分析汉族瘢痕疙瘩家系的临床遗传学特征。设计、时间及地点:调查分析,2008年在福建医科大学附属口腔医院整形外科门诊、福建检验检疫局国际旅行卫生保健中心和福州市皮肤病防治院整形外科门诊完成。对象:3个瘢痕疙瘩家系分别发现于1999,2005,2008年,分别来自福建莆田、福州和南平地区,均为汉族。4代家系1个,3代家系2个;男32人,女30人,共62人。方法:收集自1999年以来所发现的3个无亲缘关系的汉族瘢痕疙瘩家系的临床资料、比较发病特点、绘制家系系谱和分析遗传模式以说明其临床遗传学特征。结果:这些瘢痕疙瘩家系以青春期发病为主,男女患病的机会均等;杂合体即可发病,双亲之一发病其半数子女可能发病;3个瘢痕疙瘩家系发病13人,可疑发病1人,2个未发病肯定携带者,1个未发病可疑携带者;3代发病家系1个,2代发病家系2个;瘢痕疙瘩性状存在间断传递、外显不完全现象;临床表型存在个体差异。结论:汉族瘢痕疙瘩家系的遗传模式符合常染色体显性遗传、伴外显不完全,表现度存在差异,并具有延迟显性特征。

BACKGROUND： The genetic pathogenesis and inheritance mode of keloid formation have rarely been documented, and the clinical genetics characteristics of keloid formation are the premise of further study on the virulence gene position and clone. OBJECTIVE： To study the clinical genetics characteristics for Han familial keloids. DESIGN, TIME AND SETTING： A survey analysis was conducted in 2008 in the Outpatient Department of Plastic Surgery at the Affiliated Stomatological Hospital of Fujian Medical University, Fujian Entry-Exit Inspection and Quarantine Bureau International Travel Healthcare Center, and Outpatient Department of Plastic Surgery at Fuzhou Dermatosis Prevention Hospital. PARTICIPANTS： Three Han keloid pedigrees found at 1999, 2005 and 2008, respectively, were collected from Putian and Fuzhou and Nanping area of Fujian Province. One pedigree spans 4 generations and two span 3 generations. All pedigrees account for 62 family members, consisting of 32 males and 30 females. METHODS： The clinical information and features of invasion were collected from three Han keloid pedigrees among which there was no genetic relationship each other since 1999, their pedigree charts were constructed and their inherited patterns were analyzed to illustrate the clinical genetics characteristics. RESULTS： These familial keloids mainly occurred during adolescence, showing the equal chance of being affected between male and female subjects. The affected person could be heterozygous, and a child of an affected parent had a 50% chance of being affected. Thirteen subjects displayed familiar keloid, 1 suspected keloid, 2 did not present keloid as obligate carriers, and 1 did not present keloid as doubtful carrier. One pedigree displayed keloid in 3 generations, two displayed in 2 generations. The traits of familial keloids were transmitted interruptedly, revealing incomplete penetrance. The clinical phenotypes of familial keloids presented variable expression among the different affected. CONCLUSION： The pattern of inheritance observed in these Han keloid pedigrees is consistent with an autosomal dominant mode with incomplete penetrance, variable expressivity and delayed dominance.