福建省两个汉族瘢痕疙瘩家系易感基因的定位研究

目的：开展汉族瘢痕疙瘩家系易感基因定位研究。方法：收集来自福建省不同地区的两个汉族瘢痕疙瘩家系，分别命名为A和B家系，从中选出26名具有较高遗传学研究意义的成员作为研究对象，采集他们的外周静脉血样，提取基因组DNA；设定Fas基因为导致家系发病的一个候选基因，选取位于10q23．31上Fas基因周围共约10Mbp范围内与细胞凋亡障碍或肿瘤发生有关的所有已知基因相邻的微卫星标记D10S1687、D10S1765、D10S1735和D10S1562共4个，对这些微卫星位点进行PCR扩增，产物片断基因分型和连锁分析。结果：A家系微卫星标记D10S1765LODZMAX为1．86，D10S1735LODZMAX为1．29，支持连锁；D10S1562LODZMAX为0．42，不排除连锁；在O=0．0～0．10时，D10S1687标记的所有LOD值都小于-2，排除连锁。B家系微卫星标记D10S1765LODZMAX为1．63，D10S1735LODM为1．37，支持连锁；D10S1562LODZMAX为0．25，不排除连锁；在0=0．0～0．10时，D10S1687标记的所有LOD值都小于-2，排除连锁。结论：本研究提示这两个来自福建的汉族瘢痕疙瘩家系的易感基因可能位于10q23．31上D10S1765与D10S1735两位点间约1Mbp区域。

Location of predisposing genes for two Han people keloid pedigrees from Fujian Province

Objective To locate the loci of predisposing genes for Han people keloid pedigrees. Methods Peripheral venous blood samples from 26 members having more inherited significance in A and B Han people keloid pedigrees from different territory in Fujian Province were collected for extracting genomic DNA. Fas gene was assumed as one of the candidate genes resulting in keloids in these pedigrees. Four markers, D10S1687, D10S1765, D10S1735 and D10S1562 next to the all known genes relating with apoptosis or tumorigenesis in the 10 Mbp region around Fas gene on chromosomes 10q23.31 were selected as microsatellite markers. Subsequently, these markers were amplified by PCR, and all PCR products were genotyped and the linkage analyses were performed. Results In A keloid pedigree, D10S1765LODZMAX was 1.86 and D10S1735LODZMAX was 1.29, all supporting linkages, D10S1562LODZMAX was 0.42, which did not exclude the linkage, and all LQDs for D10S1562 were less than -2, at θ=0.0-0.10, which excluded the linkage. In B keloid pedigree, D10S1765LODZMAX was 1.63 and D10S1735LODZMAX was 1.37, all supporting linkages, D10S1562LODZMAXwas 0.25, which did not exclude the linkage, and all LODs for D10S1562 were less than -2, at θ=0.0- 0.10, which excluded the linkage. Conclusion This study suggests that the predisposing genes for these two Han people keloid pedigrees from Fujian Province may be mapped to the region about 1Mbp on chromosomes 10q23.31, between marker D10S1765 and D10S1735.