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目的探索一种更简便和更特异的方法,用于血友病 A 的基因诊断及其家系遗传咨询。方法提取两个血友病 A 家系中成员外周血 DNA,进行因子Ⅷ基因中内含子13(CA)n、内含子22(GT)n 和(AG)n 二核苷酸重复序列多态性分析。结果通过对内含子13和内含子22的两个 STR 位点的检测,两个家系均检出携带者。结论凝血因子Ⅷ基因中内含子重复序列是血友病 A 高多态性遗传标志之一,用于血友病 A 家系分析有较大的实用价值。
Objective To explore a simpler and more specific method for the genetic diagnosis of hemophilia A and its pedigree genetic counseling. Methods DNA from peripheral blood of two Hemophilia A pedigrees was extracted and sequenced for intron 13 (CA) n, intron 22 (GT) n and (AG) n dinucleotide repeat polymorphisms Sexual analysis. Results By detecting both STR loci of intron 13 and intron 22, carriers were detected in both families. Conclusion Intron repeat sequences of factor Ⅷ gene is one of the genetic markers of hemophilia A polymorphism. It has great practical value for the analysis of pedigrees of hemophilia A.