三个汉族瘢痕疙瘩家系调查

目的：开展汉族瘢痕疙瘩家系的遗传学研究。方法：收集无亲缘关系的汉族瘢痕疙瘩家系的临床资料，绘制家系图谱，抽取部分家系成员的外周静脉血样。结果：三个汉族瘢痕疙瘩家系中四代家系1个，三代家系2个；家系成员共62人，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；三代发病家系1个，两代发病家系2个；采集家系成员外周静脉血样37份。结论：这三个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，家系调查有助于瘢痕疙瘩的进一步遗传学研究。

The family survey on three Han Chinese keloid pedigrees

Objective To evolve the investigation on genetics for Han Chinese keloid pedigrees. Methods To collect the clinical datum from Han Chinese keloid pedigrees among which there was no relationship each other, and then to construct the charts of these pedigrees according to the datum, Peripheral vein blood samples from some members in these families were extracted also. Results Three Han Chinese keloid pedigrees were discovered. Among them, one pedigree spans 4 generations and two span 3 generations. These pedigrees account for 62 family members, of whom 13 display keloid and 2 don＇t present keloid as obligate unaffected carriers, 1 presented keloid doubtfully as doubtful unaffected carrier. One pedigree displays keloid in 3 generations, two display in 2 generations. Peripheral vein blood samples from 37 members in these families were extracted. Conclusions The pattern of inheritance observed in these Han Chinese keloid pedigrees is consistent with an autosomal dominant mode with incomplete clinical penetrance. The family survey on these pedigrees will contribute to further investigation about genetics of keloid.