结果在1例患者中发现第11外显子的1346 (G>C)的错义突变,为一种纯合突变;
Results Amissensemutationof 1346(G>C)inexon 11, which wasahomozygotic mutation, was identified in onepatient;
结果平行tgge发现,两患儿第13外显子存在一纯合突变,其父母此外显子存在杂合突变。
Resultsahomozygousmutation atexon 13 of the proband wasfound byparallelTGGE. Homozygous andheterozygousmutations were also found in the family by parallel TGGE.
与野生基因型携带者相比较,突变杂合和突变纯合基因型携带者的子代罹患CHD的OR值为0.46 (95% CI: 0.31 ~ 0.69)。
Compared withwild typegenotype,offspringsofmutant heterozygoteand homozygote were at higher risk ofCHD, with OR0.46 (95%ci: 0.31 ~ 0.69).