多个短串联重复序列位点在遗传性出血性毛细血管扩张症基因诊断中的应用

目的建立一种遗传性出血性毛细血管扩张症（HHT）间接连锁分析方法进行基因定位，为进一步查找基因突变位点提供信息。方法采用荧光标记PCR扩增技术、复合PCR技术和基因扫描的方法，对100名无关汉族个体的6个短串联重复序列（short tandem repeat，STR）进行多态性分析，对两个HIIT家系38名成员6个STR位点进行多态性连锁分析和单倍型分析。结果6个STR位点基因型分布均符合Hardy—Weinberg平衡（P〉0．05），杂合度（H）大于0．723，多态信息含量（PIC）大于0．704。两个家系连锁分析结果表明，HHT与12号染色体的ALK-1基因紧密连锁。结论选择的6个STR位点具有较好的多态性，结合基因扫描技术能够应用于HHT的间接连锁分析，该方法快速、准确、客观。

Detection of hereditary hemorrhagic telangiectasia in Chinese families by microsatellite analysis

Objective To build a linkage analysis method for the screen and detection of HHT.Methods Fluorescence-labeling polymerase chain reaction, multiplex PCR and genescan were used toanalyze the genetic polymorphism and haplotype of 100 randomly selected individuals from Chinese and twoHHT families at 6 STR loci . Results The distributions of allele frequencies of 6 STR loci were consistentwith the Hardy-Weinberg equilibrium. The heterozygosity was greater than 0. 723, The polymorphicinformation content was over 0. 704. We have shown by two point linkage analyses that two HHT pedigreewere significantly linked to ALK-1. Conclusion The highly genetic polymorphism was observed in Chinesepopulation. The STR genescan was a rapid, accurate, objective method and can be used in linkage analysisfor the detection of HHT.