比较基因组杂交研究瘢痕疙瘩遗传变异

目的 了解瘢痕疙瘩遗传学改变的特征。方法 应用比较基因组杂交技术研究6例瘢痕疙瘩基因组的不平衡即遗传物质的丢失或扩增情况。结果 瘢痕疙瘩出现高频率的DNA拷贝数缺失的染色体是1p(66．7％)、16号染色体(83．3％)、20号染色体(83．3％)、22号染色体(83．3％)，其最小重叠区分别为1pter-32．2、16p13．2-p11．1、20q11．1-q13．2、16p13．2-p11．1，未发现特异区域的DNA拷贝数的高频率扩增。结论 1p、16号染色体、20号染色体、22号染色体极可能存在相关的瘢痕疙瘩抑制基因，这些基因的丢失可能参与了瘢痕疙瘩的发生、发展。

Chromosomal aberration in human keloid analyzed by comparative genomic hybridization

Objective To identify the genetic alteration in human keloid. Methods Comparative genomic hybridization was applied in 6 cases of keloid to investigate the genomic imbalance(the gain or loss of genetic material). Results The study showed that the loss of chromosome DNA copies included chromosome,1,7,9,13,16,17,18,19,20,22.Among them,the frequently detected chromosome loss was chromosome 1 p(66.7%),16(83.3%),20(83.3%)and 22(83.3%).The minimum overlapping regions were 1 pter |32.2,16p13.2 |p11.1,20q11.1 |q13.2 and 16p13.2 |p11.1.Frequent gain of DNA copy numbers was not found in the special regions. Conclusions The mapping of DNA copy variation frequency in keloid showed that there may be inhibitory genes in chromosomes 1p,16,20,22.The loss of these genes may be involved in the development and progress of keloid. ;