目的探讨血管紧张素转移酶(ACE)基因插入/缺失多态性与肾虚型哮喘病易感性的关系,为今后的连锁分析打下基础。方法用中医诊断指标对肾虚型哮喘患儿进行初诊,应用扩增片段长度多态性(Amp-FLP)方法检测52例哮喘患儿及其家系以及72例正常...目的探讨血管紧张素转移酶(ACE)基因插入/缺失多态性与肾虚型哮喘病易感性的关系,为今后的连锁分析打下基础。方法用中医诊断指标对肾虚型哮喘患儿进行初诊,应用扩增片段长度多态性(Amp-FLP)方法检测52例哮喘患儿及其家系以及72例正常儿童的ACE基因型,然后用Hardy-W e inberg定律进行遗传平衡状态分析,用χ2检验进行统计学处理。结果两组儿童ACE基因型(II型、ID型、DD型)频率的分布差异无显著意义(P>0.05)。等位基因I频率为0.692,等位基因D频率为0.308,杂合率为34.6%;I、D的传递规律与理论上预计的完全符合。结论肾虚型哮喘病ACE基因也存在插入/缺失多态性,其中DD基因型与肾虚型哮喘的易感性有关,可能是儿童哮喘的危险因素。I、D在世代中的传递完全符合孟德尔遗传规律。展开更多
Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0....Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0. 718, respectively. All four loci can be easily amplified and labelled using two duplex PCR reactions with α-32P-dCTP and can be detected by denaturing polyacrylamide gel electrophoresis. Using these four loci and the two polymorphic (CA)n repeats located at the 5' and 3' ends of the dystrophin gene, we have developed a new PCR-based procedure -Amp-FLP (amplified fragment length polymorphism) linkage analysis for the gene diagnosis of DMD/BMD. This method can detect intragenic recombination rapidly and efficiently and greatly. improves the success rate of carrier detection and prenatal diagnosis in non-deletion DMD/BMD families. All of the loci used in this procedure are intragenic. In addition, the loci in introns 44. 45, 49 and 50 are located in the deletion-prone region of the dystrophin gene, making them valuable and useful in the identification of deletion mutations. Here we report one case of deletion detection using these four loci.展开更多
文摘目的探讨血管紧张素转移酶(ACE)基因插入/缺失多态性与肾虚型哮喘病易感性的关系,为今后的连锁分析打下基础。方法用中医诊断指标对肾虚型哮喘患儿进行初诊,应用扩增片段长度多态性(Amp-FLP)方法检测52例哮喘患儿及其家系以及72例正常儿童的ACE基因型,然后用Hardy-W e inberg定律进行遗传平衡状态分析,用χ2检验进行统计学处理。结果两组儿童ACE基因型(II型、ID型、DD型)频率的分布差异无显著意义(P>0.05)。等位基因I频率为0.692,等位基因D频率为0.308,杂合率为34.6%;I、D的传递规律与理论上预计的完全符合。结论肾虚型哮喘病ACE基因也存在插入/缺失多态性,其中DD基因型与肾虚型哮喘的易感性有关,可能是儿童哮喘的危险因素。I、D在世代中的传递完全符合孟德尔遗传规律。
文摘Four (CA)n repeats, located in introns 44, 45, 49 and 50 of the dystrophin gene., were evaluated in Chinese. These loci are highly polymorphic, with polymorphism information contents of 0. 872, 0. 772, 0. 870 and 0. 718, respectively. All four loci can be easily amplified and labelled using two duplex PCR reactions with α-32P-dCTP and can be detected by denaturing polyacrylamide gel electrophoresis. Using these four loci and the two polymorphic (CA)n repeats located at the 5' and 3' ends of the dystrophin gene, we have developed a new PCR-based procedure -Amp-FLP (amplified fragment length polymorphism) linkage analysis for the gene diagnosis of DMD/BMD. This method can detect intragenic recombination rapidly and efficiently and greatly. improves the success rate of carrier detection and prenatal diagnosis in non-deletion DMD/BMD families. All of the loci used in this procedure are intragenic. In addition, the loci in introns 44. 45, 49 and 50 are located in the deletion-prone region of the dystrophin gene, making them valuable and useful in the identification of deletion mutations. Here we report one case of deletion detection using these four loci.
